Publication Information

{'id': 'https://openalex.org/W4295250091', 'doi': 'https://doi.org/10.1002/jimd.12556', 'title': 'A multinational study of acute and long‐term outcomes of Type 1 galactosemia patients who carry the <scp>S135L</scp> (c.<scp>404C</scp> &gt; T) variant of <scp><i>GALT</i></scp>', 'display_name': 'A multinational study of acute and long‐term outcomes of Type 1 galactosemia patients who carry the <scp>S135L</scp> (c.<scp>404C</scp> &gt; T) variant of <scp><i>GALT</i></scp>', 'publication_year': 2022, 'publication_date': '2022-09-12', 'ids': {'openalex': 'https://openalex.org/W4295250091', 'doi': 'https://doi.org/10.1002/jimd.12556', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/36093991'}, 'language': 'en', 'primary_location': {'is_oa': False, 'landing_page_url': 'https://doi.org/10.1002/jimd.12556', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S186577254', 'display_name': 'Journal of Inherited Metabolic Disease', 'issn_l': '0141-8955', 'issn': ['0141-8955', '1573-2665'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310319900', 'host_organization_name': 'Springer Science+Business Media', 'host_organization_lineage': ['https://openalex.org/P4310319965', 'https://openalex.org/P4310319900'], 'host_organization_lineage_names': ['Springer Nature', 'Springer Science+Business Media'], 'type': 'journal'}, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}, 'type': 'article', 'type_crossref': 'journal-article', 'indexed_in': ['crossref', 'pubmed'], 'open_access': {'is_oa': True, 'oa_status': 'green', 'oa_url': 'http://repositorio.chlc.min-saude.pt/bitstream/10400.17/4715/1/JIMD%202022%201106.pdf', 'any_repository_has_fulltext': True}, 'authorships': [{'author_position': 'first', 'author': {'id': 'https://openalex.org/A5044829397', 'display_name': 'Quinton S. Katler', 'orcid': 'https://orcid.org/0000-0002-2389-9181'}, 'institutions': [{'id': 'https://openalex.org/I150468666', 'display_name': 'Emory University', 'ror': 'https://ror.org/03czfpz43', 'country_code': 'US', 'type': 'education', 'lineage': ['https://openalex.org/I150468666']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Quinton S. Katler', 'raw_affiliation_strings': ['Division of Reproductive Endocrinology and Infertility, Department of Gynecology and Obstetrics, Emory University School of Medicine, Atlanta, Georgia, USA'], 'affiliations': [{'raw_affiliation_string': 'Division of Reproductive Endocrinology and Infertility, Department of Gynecology and Obstetrics, Emory University School of Medicine, Atlanta, Georgia, USA', 'institution_ids': ['https://openalex.org/I150468666']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5000103878', 'display_name': 'Karolina M. Stępień', 'orcid': 'https://orcid.org/0000-0003-0148-6332'}, 'institutions': [{'id': 'https://openalex.org/I2801120809', 'display_name': 'Salford Royal NHS Foundation Trust', 'ror': 'https://ror.org/019j78370', 'country_code': 'GB', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2801120809']}], 'countries': ['GB'], 'is_corresponding': False, 'raw_author_name': 'Karolina M. Stepien', 'raw_affiliation_strings': ['Adult Inherited Metabolic Diseases Department, Salford Royal Foundation NHS Trust, Salford, UK'], 'affiliations': [{'raw_affiliation_string': 'Adult Inherited Metabolic Diseases Department, Salford Royal Foundation NHS Trust, Salford, UK', 'institution_ids': ['https://openalex.org/I2801120809']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5009626549', 'display_name': 'Nathan Paull', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I150468666', 'display_name': 'Emory University', 'ror': 'https://ror.org/03czfpz43', 'country_code': 'US', 'type': 'education', 'lineage': ['https://openalex.org/I150468666']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Nathan Paull', 'raw_affiliation_strings': ['Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA'], 'affiliations': [{'raw_affiliation_string': 'Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA', 'institution_ids': ['https://openalex.org/I150468666']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5025406356', 'display_name': 'S. G. Patel', 'orcid': 'https://orcid.org/0009-0000-2399-8553'}, 'institutions': [{'id': 'https://openalex.org/I150468666', 'display_name': 'Emory University', 'ror': 'https://ror.org/03czfpz43', 'country_code': 'US', 'type': 'education', 'lineage': ['https://openalex.org/I150468666']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Sneh Patel', 'raw_affiliation_strings': ['Neuroscience and Behavioral Biology Program, Emory University, Atlanta, Georgia, USA'], 'affiliations': [{'raw_affiliation_string': 'Neuroscience and Behavioral Biology Program, Emory University, Atlanta, Georgia, USA', 'institution_ids': ['https://openalex.org/I150468666']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5010547713', 'display_name': 'Michael W. W. Adams', 'orcid': 'https://orcid.org/0000-0003-0881-8870'}, 'institutions': [{'id': 'https://openalex.org/I114027177', 'display_name': 'University of North Carolina at Chapel Hill', 'ror': 'https://ror.org/0130frc33', 'country_code': 'US', 'type': 'education', 'lineage': ['https://openalex.org/I114027177']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Michael Adams', 'raw_affiliation_strings': ['Division of Pediatric Genetics and Metabolism, UNC School of Medicine, Chapel Hill, North Carolina, USA'], 'affiliations': [{'raw_affiliation_string': 'Division of Pediatric Genetics and Metabolism, UNC School of Medicine, Chapel Hill, North Carolina, USA', 'institution_ids': ['https://openalex.org/I114027177']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5027577665', 'display_name': 'Mehmet Cihan Balcı', 'orcid': 'https://orcid.org/0000-0002-3384-8679'}, 'institutions': [{'id': 'https://openalex.org/I67581229', 'display_name': 'Istanbul University', 'ror': 'https://ror.org/03a5qrr21', 'country_code': 'TR', 'type': 'education', 'lineage': ['https://openalex.org/I67581229']}], 'countries': ['TR'], 'is_corresponding': False, 'raw_author_name': 'Mehmet Cihan Balci', 'raw_affiliation_strings': ['Department of Pediatric Metabolic Disease, Istanbul Medical School, Istanbul, Turkey'], 'affiliations': [{'raw_affiliation_string': 'Department of Pediatric Metabolic Disease, Istanbul Medical School, Istanbul, Turkey', 'institution_ids': ['https://openalex.org/I67581229']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5011258397', 'display_name': 'Gerard T. Berry', 'orcid': 'https://orcid.org/0000-0001-5299-3313'}, 'institutions': [{'id': 'https://openalex.org/I4210166317', 'display_name': "Dana-Farber/Boston Children's Cancer and Blood Disorders Center", 'ror': 'https://ror.org/05k11pb55', 'country_code': 'US', 'type': 'healthcare', 'lineage': ['https://openalex.org/I1288882113', 'https://openalex.org/I4210117453', 'https://openalex.org/I4210166317']}, {'id': 'https://openalex.org/I1288882113', 'display_name': "Boston Children's Hospital", 'ror': 'https://ror.org/00dvg7y05', 'country_code': 'US', 'type': 'healthcare', 'lineage': ['https://openalex.org/I1288882113']}, {'id': 'https://openalex.org/I136199984', 'display_name': 'Harvard University', 'ror': 'https://ror.org/03vek6s52', 'country_code': 'US', 'type': 'education', 'lineage': ['https://openalex.org/I136199984']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Gerard T. Berry', 'raw_affiliation_strings': ["Division of Genetics and Genomics, Department of Pediatrics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA"], 'affiliations': [{'raw_affiliation_string': "Division of Genetics and Genomics, Department of Pediatrics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA", 'institution_ids': ['https://openalex.org/I4210166317', 'https://openalex.org/I1288882113', 'https://openalex.org/I136199984']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5002973087', 'display_name': 'Annet M. Bosch', 'orcid': 'https://orcid.org/0000-0001-5027-5916'}, 'institutions': [{'id': 'https://openalex.org/I887064364', 'display_name': 'University of Amsterdam', 'ror': 'https://ror.org/04dkp9463', 'country_code': 'NL', 'type': 'education', 'lineage': ['https://openalex.org/I887064364']}, {'id': 'https://openalex.org/I4210151833', 'display_name': 'Amsterdam University Medical Centers', 'ror': 'https://ror.org/05grdyy37', 'country_code': 'NL', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210151833']}, {'id': 'https://openalex.org/I4210096594', 'display_name': 'Emma Kinderziekenhuis', 'ror': 'https://ror.org/00bmv4102', 'country_code': 'NL', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210096594']}], 'countries': ['NL'], 'is_corresponding': False, 'raw_author_name': 'Annet M. Bosch', 'raw_affiliation_strings': ["Division of Metabolic Diseases, Amsterdam Gastroenterology Endocrinology Metabolism, Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC location University of Amsterdam, Amsterdam, The Netherlands"], 'affiliations': [{'raw_affiliation_string': "Division of Metabolic Diseases, Amsterdam Gastroenterology Endocrinology Metabolism, Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC location University of Amsterdam, Amsterdam, The Netherlands", 'institution_ids': ['https://openalex.org/I887064364', 'https://openalex.org/I4210151833', 'https://openalex.org/I4210096594']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5049650270', 'display_name': 'Angela DeLaO', 'orcid': None}, 'institutions': [], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Angela DeLaO', 'raw_affiliation_strings': ['Wasatch Pediatrics, Salt Lake City, Utah, USA'], 'affiliations': [{'raw_affiliation_string': 'Wasatch Pediatrics, Salt Lake City, Utah, USA', 'institution_ids': []}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5052433013', 'display_name': 'Didem Demirbas', 'orcid': 'https://orcid.org/0000-0003-2865-2708'}, 'institutions': [{'id': 'https://openalex.org/I136199984', 'display_name': 'Harvard University', 'ror': 'https://ror.org/03vek6s52', 'country_code': 'US', 'type': 'education', 'lineage': ['https://openalex.org/I136199984']}, {'id': 'https://openalex.org/I1288882113', 'display_name': "Boston Children's Hospital", 'ror': 'https://ror.org/00dvg7y05', 'country_code': 'US', 'type': 'healthcare', 'lineage': ['https://openalex.org/I1288882113']}, {'id': 'https://openalex.org/I4210166317', 'display_name': "Dana-Farber/Boston Children's Cancer and Blood Disorders Center", 'ror': 'https://ror.org/05k11pb55', 'country_code': 'US', 'type': 'healthcare', 'lineage': ['https://openalex.org/I1288882113', 'https://openalex.org/I4210117453', 'https://openalex.org/I4210166317']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Didem Demirbas', 'raw_affiliation_strings': ["Division of Genetics and Genomics, Department of Pediatrics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA"], 'affiliations': [{'raw_affiliation_string': "Division of Genetics and Genomics, Department of Pediatrics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA", 'institution_ids': ['https://openalex.org/I136199984', 'https://openalex.org/I1288882113', 'https://openalex.org/I4210166317']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5019247337', 'display_name': 'Julianna Edman', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I157725225', 'display_name': 'University of Illinois Urbana-Champaign', 'ror': 'https://ror.org/047426m28', 'country_code': 'US', 'type': 'education', 'lineage': ['https://openalex.org/I157725225']}, {'id': 'https://openalex.org/I39422238', 'display_name': 'University of Illinois Chicago', 'ror': 'https://ror.org/02mpq6x41', 'country_code': 'US', 'type': 'education', 'lineage': ['https://openalex.org/I39422238']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Julianna Edman', 'raw_affiliation_strings': ['Department of Pediatric Genetics, University of Illinois-Chicago, Chicago, Illinois, USA'], 'affiliations': [{'raw_affiliation_string': 'Department of Pediatric Genetics, University of Illinois-Chicago, Chicago, Illinois, USA', 'institution_ids': ['https://openalex.org/I157725225', 'https://openalex.org/I39422238']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5027630774', 'display_name': 'Can Fıçıcıoğlu', 'orcid': 'https://orcid.org/0000-0002-8331-9804'}, 'institutions': [{'id': 'https://openalex.org/I1335321130', 'display_name': "Children's Hospital of Philadelphia", 'ror': 'https://ror.org/01z7r7q48', 'country_code': 'US', 'type': 'healthcare', 'lineage': ['https://openalex.org/I1335321130']}, {'id': 'https://openalex.org/I79576946', 'display_name': 'University of Pennsylvania', 'ror': 'https://ror.org/00b30xv10', 'country_code': 'US', 'type': 'education', 'lineage': ['https://openalex.org/I79576946']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Can Ficicioglu', 'raw_affiliation_strings': ["Division of Human Genetics and Metabolism, The Children's Hospital of Philadelphia, Perelman School of Medicine at The University of Pennsylvania, Philadelphia, Pennsylvania, USA"], 'affiliations': [{'raw_affiliation_string': "Division of Human Genetics and Metabolism, The Children's Hospital of Philadelphia, Perelman School of Medicine at The University of Pennsylvania, Philadelphia, Pennsylvania, USA", 'institution_ids': ['https://openalex.org/I1335321130', 'https://openalex.org/I79576946']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5083001505', 'display_name': 'Mélanie Le Goff', 'orcid': 'https://orcid.org/0000-0003-2848-6287'}, 'institutions': [{'id': 'https://openalex.org/I1314135232', 'display_name': "Nationwide Children's Hospital", 'ror': 'https://ror.org/003rfsp33', 'country_code': 'US', 'type': 'healthcare', 'lineage': ['https://openalex.org/I1314135232']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Melanie Goff', 'raw_affiliation_strings': ["Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA"], 'affiliations': [{'raw_affiliation_string': "Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA", 'institution_ids': ['https://openalex.org/I1314135232']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5032293403', 'display_name': 'Stephanie Hacker', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I145608581', 'display_name': 'University of Miami', 'ror': 'https://ror.org/02dgjyy92', 'country_code': 'US', 'type': 'education', 'lineage': ['https://openalex.org/I145608581']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Stephanie Hacker', 'raw_affiliation_strings': ['Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA'], 'affiliations': [{'raw_affiliation_string': 'Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA', 'institution_ids': ['https://openalex.org/I145608581']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5006966089', 'display_name': 'Ina Knerr', 'orcid': 'https://orcid.org/0000-0002-4015-0658'}, 'institutions': [{'id': 'https://openalex.org/I3019103622', 'display_name': "Temple Street Children's University Hospital", 'ror': 'https://ror.org/0527gjc91', 'country_code': 'IE', 'type': 'healthcare', 'lineage': ['https://openalex.org/I3019103622']}], 'countries': ['IE'], 'is_corresponding': False, 'raw_author_name': 'Ina Knerr', 'raw_affiliation_strings': ["National Centre for Inherited Metabolic Disorders, Temple St. Children's University Hospital, Dublin, Ireland"], 'affiliations': [{'raw_affiliation_string': "National Centre for Inherited Metabolic Disorders, Temple St. Children's University Hospital, Dublin, Ireland", 'institution_ids': ['https://openalex.org/I3019103622']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5023681548', 'display_name': 'Kristen Lancaster', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I114027177', 'display_name': 'University of North Carolina at Chapel Hill', 'ror': 'https://ror.org/0130frc33', 'country_code': 'US', 'type': 'education', 'lineage': ['https://openalex.org/I114027177']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Kristen Lancaster', 'raw_affiliation_strings': ['Division of Pediatric Genetics and Metabolism, UNC School of Medicine, Chapel Hill, North Carolina, USA'], 'affiliations': [{'raw_affiliation_string': 'Division of Pediatric Genetics and Metabolism, UNC School of Medicine, Chapel Hill, North Carolina, USA', 'institution_ids': ['https://openalex.org/I114027177']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5100339448', 'display_name': 'Hong Li', 'orcid': 'https://orcid.org/0000-0003-4158-1860'}, 'institutions': [{'id': 'https://openalex.org/I150468666', 'display_name': 'Emory University', 'ror': 'https://ror.org/03czfpz43', 'country_code': 'US', 'type': 'education', 'lineage': ['https://openalex.org/I150468666']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Hong Li', 'raw_affiliation_strings': ['Departments of Human Genetics and Pediatrics, Emory University School of Medicine, Atlanta, Georgia, USA'], 'affiliations': [{'raw_affiliation_string': 'Departments of Human Genetics and Pediatrics, Emory University School of Medicine, Atlanta, Georgia, USA', 'institution_ids': ['https://openalex.org/I150468666']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5074257331', 'display_name': 'Bryce A. Mendelsohn', 'orcid': 'https://orcid.org/0000-0001-8174-5116'}, 'institutions': [{'id': 'https://openalex.org/I2801936213', 'display_name': 'Kaiser Permanente Oakland Medical Center', 'ror': 'https://ror.org/05rfek682', 'country_code': 'US', 'type': 'healthcare', 'lineage': ['https://openalex.org/I1343052199', 'https://openalex.org/I2801936213']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Bryce A. Mendelsohn', 'raw_affiliation_strings': ['Department of Genetics, Oakland Medical Center, Kaiser Permanente, Oakland, California, USA'], 'affiliations': [{'raw_affiliation_string': 'Department of Genetics, Oakland Medical Center, Kaiser Permanente, Oakland, California, USA', 'institution_ids': ['https://openalex.org/I2801936213']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5065939250', 'display_name': 'Brandi Nichols', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I1301864278', 'display_name': "Arkansas Children's Hospital", 'ror': 'https://ror.org/01t33qq42', 'country_code': 'US', 'type': 'healthcare', 'lineage': ['https://openalex.org/I1301864278']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Brandi Nichols', 'raw_affiliation_strings': ["Department of Clinical Nutrition, Arkansas Children's Hospital, Little Rock, Arkansas, USA"], 'affiliations': [{'raw_affiliation_string': "Department of Clinical Nutrition, Arkansas Children's Hospital, Little Rock, Arkansas, USA", 'institution_ids': ['https://openalex.org/I1301864278']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5081085211', 'display_name': 'Wladimir Bocca Vieira de Rezende Pinto', 'orcid': 'https://orcid.org/0000-0002-0150-525X'}, 'institutions': [{'id': 'https://openalex.org/I88273585', 'display_name': 'Universidade Federal de São Paulo', 'ror': 'https://ror.org/02k5swt12', 'country_code': 'BR', 'type': 'education', 'lineage': ['https://openalex.org/I88273585']}], 'countries': ['BR'], 'is_corresponding': False, 'raw_author_name': 'Wladimir Bocca Vieira de Rezende Pinto', 'raw_affiliation_strings': ['Division of Neuromuscular Diseases Universidade Federal de São Paulo (UNIFESP)  São Paulo Brazil'], 'affiliations': [{'raw_affiliation_string': 'Division of Neuromuscular Diseases Universidade Federal de São Paulo (UNIFESP)  São Paulo Brazil', 'institution_ids': ['https://openalex.org/I88273585']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5069932759', 'display_name': 'Júlio César Rocha', 'orcid': 'https://orcid.org/0000-0002-4977-8345'}, 'institutions': [{'id': 'https://openalex.org/I4210095157', 'display_name': 'Centro Hospitalar de Lisboa Central', 'ror': 'https://ror.org/00k6r3f30', 'country_code': 'PT', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210095157']}, {'id': 'https://openalex.org/I4210137384', 'display_name': 'Centre for Health Technology and Services Research', 'ror': 'https://ror.org/0434vme59', 'country_code': 'PT', 'type': 'facility', 'lineage': ['https://openalex.org/I4210137384']}, {'id': 'https://openalex.org/I83558840', 'display_name': 'Universidade Nova de Lisboa', 'ror': 'https://ror.org/02xankh89', 'country_code': 'PT', 'type': 'education', 'lineage': ['https://openalex.org/I83558840']}], 'countries': ['PT'], 'is_corresponding': False, 'raw_author_name': 'Júlio César Rocha', 'raw_affiliation_strings': ['Center for Health Technology and Services Research (CINTESIS), NOVA Medical School, Lisbon, Portugal  Lisbon Portugal', 'Nutrition &amp; Metabolism, NOVA Medical School, Faculdade de Ciências Médicas, Universidade Nova de Lisboa Lisbon Portugal', 'Reference Centre of Inherited Metabolic Diseases, Centro Hospitalar Universitário de Lisboa Central  Lisbon Portugal'], 'affiliations': [{'raw_affiliation_string': 'Reference Centre of Inherited Metabolic Diseases, Centro Hospitalar Universitário de Lisboa Central  Lisbon Portugal', 'institution_ids': ['https://openalex.org/I4210095157']}, {'raw_affiliation_string': 'Center for Health Technology and Services Research (CINTESIS), NOVA Medical School, Lisbon, Portugal  Lisbon Portugal', 'institution_ids': ['https://openalex.org/I4210137384', 'https://openalex.org/I83558840']}, {'raw_affiliation_string': 'Nutrition &amp; Metabolism, NOVA Medical School, Faculdade de Ciências Médicas, Universidade Nova de Lisboa Lisbon Portugal', 'institution_ids': ['https://openalex.org/I83558840']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5091663656', 'display_name': 'M. Estela Rubio‐Gozalbo', 'orcid': 'https://orcid.org/0000-0001-7182-4056'}, 'institutions': [{'id': 'https://openalex.org/I2800191616', 'display_name': 'Maastricht University Medical Centre', 'ror': 'https://ror.org/02d9ce178', 'country_code': 'NL', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2800191616']}], 'countries': ['NL'], 'is_corresponding': False, 'raw_author_name': 'M. Estela Rubio‐Gozalbo', 'raw_affiliation_strings': ['Department of Pediatrics, Department of Clinical Genetics, GROW-School for Oncology and Reproduction, European Reference Network for Hereditary Metabolic Disorders (MetabERN) member and United for Metabolic Diseases Member, Maastricht University Medical Centre, Maastricht, The Netherlands'], 'affiliations': [{'raw_affiliation_string': 'Department of Pediatrics, Department of Clinical Genetics, GROW-School for Oncology and Reproduction, European Reference Network for Hereditary Metabolic Disorders (MetabERN) member and United for Metabolic Diseases Member, Maastricht University Medical Centre, Maastricht, The Netherlands', 'institution_ids': ['https://openalex.org/I2800191616']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5063427131', 'display_name': 'Michael Saad‐Naguib', 'orcid': 'https://orcid.org/0000-0002-6676-6223'}, 'institutions': [{'id': 'https://openalex.org/I145608581', 'display_name': 'University of Miami', 'ror': 'https://ror.org/02dgjyy92', 'country_code': 'US', 'type': 'education', 'lineage': ['https://openalex.org/I145608581']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Michael Saad‐Naguib', 'raw_affiliation_strings': ['Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA'], 'affiliations': [{'raw_affiliation_string': 'Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA', 'institution_ids': ['https://openalex.org/I145608581']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5010174033', 'display_name': 'Sabine Scholl‐Buergi', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I143397708', 'display_name': 'Innsbruck Medical University', 'ror': 'https://ror.org/03pt86f80', 'country_code': 'AT', 'type': 'education', 'lineage': ['https://openalex.org/I143397708']}, {'id': 'https://openalex.org/I190249584', 'display_name': 'Universität Innsbruck', 'ror': 'https://ror.org/054pv6659', 'country_code': 'AT', 'type': 'education', 'lineage': ['https://openalex.org/I190249584']}], 'countries': ['AT'], 'is_corresponding': False, 'raw_author_name': 'Sabine Scholl‐Buergi', 'raw_affiliation_strings': ['Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria'], 'affiliations': [{'raw_affiliation_string': 'Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria', 'institution_ids': ['https://openalex.org/I143397708', 'https://openalex.org/I190249584']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5003345773', 'display_name': 'Sarah Searcy', 'orcid': 'https://orcid.org/0000-0003-4883-682X'}, 'institutions': [{'id': 'https://openalex.org/I1314135232', 'display_name': "Nationwide Children's Hospital", 'ror': 'https://ror.org/003rfsp33', 'country_code': 'US', 'type': 'healthcare', 'lineage': ['https://openalex.org/I1314135232']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Sarah Searcy', 'raw_affiliation_strings': ["Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA"], 'affiliations': [{'raw_affiliation_string': "Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA", 'institution_ids': ['https://openalex.org/I1314135232']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5028997352', 'display_name': 'Paulo Victor Sgobbi de Souza', 'orcid': 'https://orcid.org/0000-0002-7416-7108'}, 'institutions': [{'id': 'https://openalex.org/I88273585', 'display_name': 'Universidade Federal de São Paulo', 'ror': 'https://ror.org/02k5swt12', 'country_code': 'BR', 'type': 'education', 'lineage': ['https://openalex.org/I88273585']}], 'countries': ['BR'], 'is_corresponding': False, 'raw_author_name': 'Paulo Victor Sgobbi de Souza', 'raw_affiliation_strings': ['Division of Neuromuscular Diseases Federal University of São Paulo (UNIFESP)  São Paulo Brazil'], 'affiliations': [{'raw_affiliation_string': 'Division of Neuromuscular Diseases Federal University of São Paulo (UNIFESP)  São Paulo Brazil', 'institution_ids': ['https://openalex.org/I88273585']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5084343116', 'display_name': 'Angela Wittenauer', 'orcid': 'https://orcid.org/0000-0003-1194-4499'}, 'institutions': [{'id': 'https://openalex.org/I150468666', 'display_name': 'Emory University', 'ror': 'https://ror.org/03czfpz43', 'country_code': 'US', 'type': 'education', 'lineage': ['https://openalex.org/I150468666']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Angela Wittenauer', 'raw_affiliation_strings': ['Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA'], 'affiliations': [{'raw_affiliation_string': 'Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA', 'institution_ids': ['https://openalex.org/I150468666']}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5087661235', 'display_name': 'Judith L. Fridovich‐Keil', 'orcid': 'https://orcid.org/0000-0001-7947-5807'}, 'institutions': [{'id': 'https://openalex.org/I150468666', 'display_name': 'Emory University', 'ror': 'https://ror.org/03czfpz43', 'country_code': 'US', 'type': 'education', 'lineage': ['https://openalex.org/I150468666']}], 'countries': ['US'], 'is_corresponding': True, 'raw_author_name': 'Judith L. Fridovich‐Keil', 'raw_affiliation_strings': ['Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA'], 'affiliations': [{'raw_affiliation_string': 'Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA', 'institution_ids': ['https://openalex.org/I150468666']}]}], 'institution_assertions': [], 'countries_distinct_count': 8, 'institutions_distinct_count': 26, 'corresponding_author_ids': ['https://openalex.org/A5087661235'], 'corresponding_institution_ids': ['https://openalex.org/I150468666'], 'apc_list': {'value': 3300, 'currency': 'USD', 'value_usd': 3300, 'provenance': 'doaj'}, 'apc_paid': None, 'fwci': 1.275, 'has_fulltext': True, 'fulltext_origin': 'pdf', 'cited_by_count': 5, 'citation_normalized_percentile': {'value': 0.70358, 'is_in_top_1_percent': False, 'is_in_top_10_percent': False}, 'cited_by_percentile_year': {'min': 83, 'max': 85}, 'biblio': {'volume': '45', 'issue': '6', 'first_page': '1106', 'last_page': '1117'}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T11027', 'display_name': 'Metabolism and Genetic Disorders', 'score': 0.9999, 'subfield': {'id': 'https://openalex.org/subfields/1308', 'display_name': 'Clinical Biochemistry'}, 'field': {'id': 'https://openalex.org/fields/13', 'display_name': 'Biochemistry, Genetics and Molecular Biology'}, 'domain': {'id': 'https://openalex.org/domains/1', 'display_name': 'Life Sciences'}}, 'topics': [{'id': 'https://openalex.org/T11027', 'display_name': 'Metabolism and Genetic Disorders', 'score': 0.9999, 'subfield': {'id': 'https://openalex.org/subfields/1308', 'display_name': 'Clinical Biochemistry'}, 'field': {'id': 'https://openalex.org/fields/13', 'display_name': 'Biochemistry, Genetics and Molecular Biology'}, 'domain': {'id': 'https://openalex.org/domains/1', 'display_name': 'Life Sciences'}}, {'id': 'https://openalex.org/T12068', 'display_name': 'Neonatal Health and Biochemistry', 'score': 0.998, 'subfield': {'id': 'https://openalex.org/subfields/2735', 'display_name': 'Pediatrics, Perinatology and Child Health'}, 'field': {'id': 'https://openalex.org/fields/27', 'display_name': 'Medicine'}, 'domain': {'id': 'https://openalex.org/domains/4', 'display_name': 'Health Sciences'}}, {'id': 'https://openalex.org/T11623', 'display_name': 'Hyperglycemia and glycemic control in critically ill and hospitalized patients', 'score': 0.9976, 'subfield': {'id': 'https://openalex.org/subfields/2712', 'display_name': 'Endocrinology, Diabetes and Metabolism'}, 'field': {'id': 'https://openalex.org/fields/27', 'display_name': 'Medicine'}, 'domain': {'id': 'https://openalex.org/domains/4', 'display_name': 'Health Sciences'}}], 'keywords': [{'id': 'https://openalex.org/keywords/galactosemia', 'display_name': 'Galactosemia', 'score': 0.91971946}, {'id': 'https://openalex.org/keywords/compound-heterozygosity', 'display_name': 'Compound heterozygosity', 'score': 0.606045}], 'concepts': [{'id': 'https://openalex.org/C2779274956', 'wikidata': 'https://www.wikidata.org/wiki/Q774483', 'display_name': 'Galactosemia', 'level': 3, 'score': 0.91971946}, {'id': 'https://openalex.org/C71924100', 'wikidata': 'https://www.wikidata.org/wiki/Q11190', 'display_name': 'Medicine', 'level': 0, 'score': 0.6271802}, {'id': 'https://openalex.org/C12125453', 'wikidata': 'https://www.wikidata.org/wiki/Q5156837', 'display_name': 'Compound heterozygosity', 'level': 4, 'score': 0.606045}, {'id': 'https://openalex.org/C2776169613', 'wikidata': 'https://www.wikidata.org/wiki/Q2305910', 'display_name': 'Newborn screening', 'level': 2, 'score': 0.52636486}, {'id': 'https://openalex.org/C187212893', 'wikidata': 'https://www.wikidata.org/wiki/Q123028', 'display_name': 'Pediatrics', 'level': 1, 'score': 0.52129006}, {'id': 'https://openalex.org/C126322002', 'wikidata': 'https://www.wikidata.org/wiki/Q11180', 'display_name': 'Internal medicine', 'level': 1, 'score': 0.49101973}, {'id': 'https://openalex.org/C180754005', 'wikidata': 'https://www.wikidata.org/wiki/Q80726', 'display_name': 'Allele', 'level': 3, 'score': 0.4134434}, {'id': 'https://openalex.org/C134018914', 'wikidata': 'https://www.wikidata.org/wiki/Q162606', 'display_name': 'Endocrinology', 'level': 1, 'score': 0.37302387}, {'id': 'https://openalex.org/C2778173381', 'wikidata': 'https://www.wikidata.org/wiki/Q66589593', 'display_name': 'Galactose', 'level': 2, 'score': 0.26034337}, {'id': 'https://openalex.org/C54355233', 'wikidata': 'https://www.wikidata.org/wiki/Q7162', 'display_name': 'Genetics', 'level': 1, 'score': 0.24310613}, {'id': 'https://openalex.org/C86803240', 'wikidata': 'https://www.wikidata.org/wiki/Q420', 'display_name': 'Biology', 'level': 0, 'score': 0.20178586}, {'id': 'https://openalex.org/C104317684', 'wikidata': 'https://www.wikidata.org/wiki/Q7187', 'display_name': 'Gene', 'level': 2, 'score': 0.11668438}, {'id': 'https://openalex.org/C55493867', 'wikidata': 'https://www.wikidata.org/wiki/Q7094', 'display_name': 'Biochemistry', 'level': 1, 'score': 0.08024776}], 'mesh': [{'descriptor_ui': 'D005693', 'descriptor_name': 'Galactosemias', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D000483', 'descriptor_name': 'Alleles', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D005260', 'descriptor_name': 'Female', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D005690', 'descriptor_name': 'Galactose', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D005693', 'descriptor_name': 'Galactosemias', 'qualifier_ui': 'Q000175', 'qualifier_name': 'diagnosis', 'is_major_topic': False}, {'descriptor_ui': 'D005693', 'descriptor_name': 'Galactosemias', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D006720', 'descriptor_name': 'Homozygote', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D006801', 'descriptor_name': 'Humans', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D007231', 'descriptor_name': 'Infant, Newborn', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D005694', 'descriptor_name': 'UTP-Hexose-1-Phosphate Uridylyltransferase', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D005694', 'descriptor_name': 'UTP-Hexose-1-Phosphate Uridylyltransferase', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}], 'locations_count': 4, 'locations': [{'is_oa': False, 'landing_page_url': 'https://doi.org/10.1002/jimd.12556', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S186577254', 'display_name': 'Journal of Inherited Metabolic Disease', 'issn_l': '0141-8955', 'issn': ['0141-8955', '1573-2665'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310319900', 'host_organization_name': 'Springer Science+Business Media', 'host_organization_lineage': ['https://openalex.org/P4310319965', 'https://openalex.org/P4310319900'], 'host_organization_lineage_names': ['Springer Nature', 'Springer Science+Business Media'], 'type': 'journal'}, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}, {'is_oa': True, 'landing_page_url': 'https://hdl.handle.net/10400.17/4715', 'pdf_url': 'http://repositorio.chlc.min-saude.pt/bitstream/10400.17/4715/1/JIMD%202022%201106.pdf', 'source': {'id': 'https://openalex.org/S4306402433', 'display_name': 'Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT)', 'issn_l': None, 'issn': None, 'is_oa': True, 'is_in_doaj': False, 'is_core': False, 'host_organization': None, 'host_organization_name': None, 'host_organization_lineage': [], 'host_organization_lineage_names': [], 'type': 'repository'}, 'license': 'other-oa', 'license_id': 'https://openalex.org/licenses/other-oa', 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, {'is_oa': True, 'landing_page_url': 'https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9643640', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S2764455111', 'display_name': 'PubMed Central', 'issn_l': None, 'issn': None, 'is_oa': True, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I1299303238', 'host_organization_name': 'National Institutes of Health', 'host_organization_lineage': ['https://openalex.org/I1299303238'], 'host_organization_lineage_names': ['National Institutes of Health'], 'type': 'repository'}, 'license': None, 'license_id': None, 'version': 'acceptedVersion', 'is_accepted': True, 'is_published': False}, {'is_oa': False, 'landing_page_url': 'https://pubmed.ncbi.nlm.nih.gov/36093991', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S4306525036', 'display_name': 'PubMed', 'issn_l': None, 'issn': None, 'is_oa': False, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I1299303238', 'host_organization_name': 'National Institutes of Health', 'host_organization_lineage': ['https://openalex.org/I1299303238'], 'host_organization_lineage_names': ['National Institutes of Health'], 'type': 'repository'}, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}], 'best_oa_location': {'is_oa': True, 'landing_page_url': 'https://hdl.handle.net/10400.17/4715', 'pdf_url': 'http://repositorio.chlc.min-saude.pt/bitstream/10400.17/4715/1/JIMD%202022%201106.pdf', 'source': {'id': 'https://openalex.org/S4306402433', 'display_name': 'Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT)', 'issn_l': None, 'issn': None, 'is_oa': True, 'is_in_doaj': False, 'is_core': False, 'host_organization': None, 'host_organization_name': None, 'host_organization_lineage': [], 'host_organization_lineage_names': [], 'type': 'repository'}, 'license': 'other-oa', 'license_id': 'https://openalex.org/licenses/other-oa', 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, 'sustainable_development_goals': [], 'grants': [], 'datasets': [], 'versions': [], 'referenced_works_count': 30, 'referenced_works': ['https://openalex.org/W1561815986', 'https://openalex.org/W1974620888', 'https://openalex.org/W1982131709', 'https://openalex.org/W1987229178', 'https://openalex.org/W1996972802', 'https://openalex.org/W2040109827', 'https://openalex.org/W2049502038', 'https://openalex.org/W2049916171', 'https://openalex.org/W2053971534', 'https://openalex.org/W2068347716', 'https://openalex.org/W2084034671', 'https://openalex.org/W2089020104', 'https://openalex.org/W2093274439', 'https://openalex.org/W2095035085', 'https://openalex.org/W2110065044', 'https://openalex.org/W2138565694', 'https://openalex.org/W2141362309', 'https://openalex.org/W2159123760', 'https://openalex.org/W2164539112', 'https://openalex.org/W2318802957', 'https://openalex.org/W2327678559', 'https://openalex.org/W2375322471', 'https://openalex.org/W2736205846', 'https://openalex.org/W2800368226', 'https://openalex.org/W2907094040', 'https://openalex.org/W2911727954', 'https://openalex.org/W2941271490', 'https://openalex.org/W2992455925', 'https://openalex.org/W4200403701', 'https://openalex.org/W4284988921'], 'related_works': ['https://openalex.org/W4311377013', 'https://openalex.org/W4289533738', 'https://openalex.org/W4285023888', 'https://openalex.org/W2907842345', 'https://openalex.org/W2794816176', 'https://openalex.org/W2567626615', 'https://openalex.org/W2171563687', 'https://openalex.org/W2081966826', 'https://openalex.org/W2058770856', 'https://openalex.org/W1599056620'], 'abstract_inverted_index': None, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W4295250091', 'counts_by_year': [{'year': 2024, 'cited_by_count': 4}, {'year': 2023, 'cited_by_count': 1}], 'updated_date': '2024-12-09T19:25:16.043759', 'created_date': '2022-09-12'}