Get quick answers to your questions about the article from our AI researcher chatbot
{'id': 'https://openalex.org/W3135344376', 'doi': 'https://doi.org/10.1016/j.ymgmr.2021.100739', 'title': 'Favorable outcomes following early onset oral miglustat in early infantile Niemann Pick Type C', 'display_name': 'Favorable outcomes following early onset oral miglustat in early infantile Niemann Pick Type C', 'publication_year': 2021, 'publication_date': '2021-03-07', 'ids': {'openalex': 'https://openalex.org/W3135344376', 'doi': 'https://doi.org/10.1016/j.ymgmr.2021.100739', 'mag': '3135344376', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/33732620', 'pmcid': 'https://www.ncbi.nlm.nih.gov/pmc/articles/7941164'}, 'language': 'en', 'primary_location': {'is_oa': True, 'landing_page_url': 'https://doi.org/10.1016/j.ymgmr.2021.100739', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S2764617610', 'display_name': 'Molecular Genetics and Metabolism Reports', 'issn_l': '2214-4269', 'issn': ['2214-4269'], 'is_oa': True, 'is_in_doaj': True, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320990', 'host_organization_name': 'Elsevier BV', 'host_organization_lineage': ['https://openalex.org/P4310320990'], 'host_organization_lineage_names': ['Elsevier BV'], 'type': 'journal'}, 'license': 'cc-by', 'license_id': 'https://openalex.org/licenses/cc-by', 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, 'type': 'article', 'type_crossref': 'journal-article', 'indexed_in': ['crossref', 'doaj'], 'open_access': {'is_oa': True, 'oa_status': 'gold', 'oa_url': 'https://doi.org/10.1016/j.ymgmr.2021.100739', 'any_repository_has_fulltext': True}, 'authorships': [{'author_position': 'first', 'author': {'id': 'https://openalex.org/A5019639667', 'display_name': 'S Curelaru', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I2799294462', 'display_name': 'Emek Medical Center', 'ror': 'https://ror.org/02b988t02', 'country_code': 'IL', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2799294462', 'https://openalex.org/I64767286']}], 'countries': ['IL'], 'is_corresponding': False, 'raw_author_name': 'Shiri Curelaru', 'raw_affiliation_strings': ['Department of Pediatrics B, Emek Medical Center, Afula, Israel'], 'affiliations': [{'raw_affiliation_string': 'Department of Pediatrics B, Emek Medical Center, Afula, Israel', 'institution_ids': ['https://openalex.org/I2799294462']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5002939889', 'display_name': 'Yoav Zehavi', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I174306211', 'display_name': 'Technion – Israel Institute of Technology', 'ror': 'https://ror.org/03qryx823', 'country_code': 'IL', 'type': 'education', 'lineage': ['https://openalex.org/I174306211']}, {'id': 'https://openalex.org/I2799294462', 'display_name': 'Emek Medical Center', 'ror': 'https://ror.org/02b988t02', 'country_code': 'IL', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2799294462', 'https://openalex.org/I64767286']}], 'countries': ['IL'], 'is_corresponding': False, 'raw_author_name': 'Yoav Zehavi', 'raw_affiliation_strings': ['Department of Pediatrics B, Emek Medical Center, Afula, Israel', 'Rappaport School of Medicine, Technion, Haifa, Israel'], 'affiliations': [{'raw_affiliation_string': 'Rappaport School of Medicine, Technion, Haifa, Israel', 'institution_ids': ['https://openalex.org/I174306211']}, {'raw_affiliation_string': 'Department of Pediatrics B, Emek Medical Center, Afula, Israel', 'institution_ids': ['https://openalex.org/I2799294462']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5022295616', 'display_name': 'Tal Almagor', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I174306211', 'display_name': 'Technion – Israel Institute of Technology', 'ror': 'https://ror.org/03qryx823', 'country_code': 'IL', 'type': 'education', 'lineage': ['https://openalex.org/I174306211']}, {'id': 'https://openalex.org/I2799294462', 'display_name': 'Emek Medical Center', 'ror': 'https://ror.org/02b988t02', 'country_code': 'IL', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2799294462', 'https://openalex.org/I64767286']}], 'countries': ['IL'], 'is_corresponding': False, 'raw_author_name': 'Tal Almagor', 'raw_affiliation_strings': ['Department of Pediatrics B, Emek Medical Center, Afula, Israel', 'Rappaport School of Medicine, Technion, Haifa, Israel'], 'affiliations': [{'raw_affiliation_string': 'Rappaport School of Medicine, Technion, Haifa, Israel', 'institution_ids': ['https://openalex.org/I174306211']}, {'raw_affiliation_string': 'Department of Pediatrics B, Emek Medical Center, Afula, Israel', 'institution_ids': ['https://openalex.org/I2799294462']}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5069499376', 'display_name': 'Ronen Spiegel', 'orcid': 'https://orcid.org/0000-0002-0108-4184'}, 'institutions': [{'id': 'https://openalex.org/I174306211', 'display_name': 'Technion – Israel Institute of Technology', 'ror': 'https://ror.org/03qryx823', 'country_code': 'IL', 'type': 'education', 'lineage': ['https://openalex.org/I174306211']}, {'id': 'https://openalex.org/I2799294462', 'display_name': 'Emek Medical Center', 'ror': 'https://ror.org/02b988t02', 'country_code': 'IL', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2799294462', 'https://openalex.org/I64767286']}], 'countries': ['IL'], 'is_corresponding': True, 'raw_author_name': 'Ronen Spiegel', 'raw_affiliation_strings': ['Department of Pediatrics B, Emek Medical Center, Afula, Israel', 'Rappaport School of Medicine, Technion, Haifa, Israel'], 'affiliations': [{'raw_affiliation_string': 'Rappaport School of Medicine, Technion, Haifa, Israel', 'institution_ids': ['https://openalex.org/I174306211']}, {'raw_affiliation_string': 'Department of Pediatrics B, Emek Medical Center, Afula, Israel', 'institution_ids': ['https://openalex.org/I2799294462']}]}], 'institution_assertions': [], 'countries_distinct_count': 1, 'institutions_distinct_count': 2, 'corresponding_author_ids': ['https://openalex.org/A5069499376'], 'corresponding_institution_ids': ['https://openalex.org/I174306211', 'https://openalex.org/I2799294462'], 'apc_list': {'value': 1750, 'currency': 'USD', 'value_usd': 1750, 'provenance': 'doaj'}, 'apc_paid': {'value': 1750, 'currency': 'USD', 'value_usd': 1750, 'provenance': 'doaj'}, 'fwci': 1.161, 'has_fulltext': False, 'cited_by_count': 8, 'citation_normalized_percentile': {'value': 0.754601, 'is_in_top_1_percent': False, 'is_in_top_10_percent': False}, 'cited_by_percentile_year': {'min': 84, 'max': 86}, 'biblio': {'volume': '27', 'issue': None, 'first_page': '100739', 'last_page': '100739'}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T10945', 'display_name': 'Lysosomal Storage Disorders Research', 'score': 1.0, 'subfield': {'id': 'https://openalex.org/subfields/2737', 'display_name': 'Physiology'}, 'field': {'id': 'https://openalex.org/fields/27', 'display_name': 'Medicine'}, 'domain': {'id': 'https://openalex.org/domains/4', 'display_name': 'Health Sciences'}}, 'topics': [{'id': 'https://openalex.org/T10945', 'display_name': 'Lysosomal Storage Disorders Research', 'score': 1.0, 'subfield': {'id': 'https://openalex.org/subfields/2737', 'display_name': 'Physiology'}, '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/T10835', 'display_name': 'Carbohydrate Chemistry and Synthesis', 'score': 0.9949, 'subfield': {'id': 'https://openalex.org/subfields/1605', 'display_name': 'Organic Chemistry'}, 'field': {'id': 'https://openalex.org/fields/16', 'display_name': 'Chemistry'}, 'domain': {'id': 'https://openalex.org/domains/3', 'display_name': 'Physical Sciences'}}, {'id': 'https://openalex.org/T11632', 'display_name': 'Family and Disability Support Research', 'score': 0.9472, 'subfield': {'id': 'https://openalex.org/subfields/3203', 'display_name': 'Clinical Psychology'}, 'field': {'id': 'https://openalex.org/fields/32', 'display_name': 'Psychology'}, 'domain': {'id': 'https://openalex.org/domains/2', 'display_name': 'Social Sciences'}}], 'keywords': [{'id': 'https://openalex.org/keywords/npc1', 'display_name': 'NPC1', 'score': 0.7379975}, {'id': 'https://openalex.org/keywords/niemann–pick-disease', 'display_name': 'Niemann–Pick disease', 'score': 0.6068077}, {'id': 'https://openalex.org/keywords/lysosomal-storage-disease', 'display_name': 'Lysosomal storage disease', 'score': 0.56755114}], 'concepts': [{'id': 'https://openalex.org/C2780635549', 'wikidata': 'https://www.wikidata.org/wiki/Q2067267', 'display_name': 'Niemann–Pick disease, type C', 'level': 3, 'score': 0.9161171}, {'id': 'https://openalex.org/C71924100', 'wikidata': 'https://www.wikidata.org/wiki/Q11190', 'display_name': 'Medicine', 'level': 0, 'score': 0.7895717}, {'id': 'https://openalex.org/C2778552423', 'wikidata': 'https://www.wikidata.org/wiki/Q14914279', 'display_name': 'NPC1', 'level': 4, 'score': 0.7379975}, {'id': 'https://openalex.org/C2779134260', 'wikidata': 'https://www.wikidata.org/wiki/Q12136', 'display_name': 'Disease', 'level': 2, 'score': 0.6893191}, {'id': 'https://openalex.org/C187212893', 'wikidata': 'https://www.wikidata.org/wiki/Q123028', 'display_name': 'Pediatrics', 'level': 1, 'score': 0.63680845}, {'id': 'https://openalex.org/C2779489717', 'wikidata': 'https://www.wikidata.org/wiki/Q1419931', 'display_name': 'Niemann–Pick disease', 'level': 3, 'score': 0.6068077}, {'id': 'https://openalex.org/C2778264360', 'wikidata': 'https://www.wikidata.org/wiki/Q675010', 'display_name': 'Lysosomal storage disease', 'level': 3, 'score': 0.56755114}, {'id': 'https://openalex.org/C2779969927', 'wikidata': 'https://www.wikidata.org/wiki/Q916766', 'display_name': 'Enzyme replacement therapy', 'level': 3, 'score': 0.47328633}, {'id': 'https://openalex.org/C126322002', 'wikidata': 'https://www.wikidata.org/wiki/Q11180', 'display_name': 'Internal medicine', 'level': 1, 'score': 0.30669555}, {'id': 'https://openalex.org/C170493617', 'wikidata': 'https://www.wikidata.org/wiki/Q208467', 'display_name': 'Receptor', 'level': 2, 'score': 0.0}, {'id': 'https://openalex.org/C102747710', 'wikidata': 'https://www.wikidata.org/wiki/Q824237', 'display_name': 'Endosome', 'level': 3, 'score': 0.0}], 'mesh': [], 'locations_count': 3, 'locations': [{'is_oa': True, 'landing_page_url': 'https://doi.org/10.1016/j.ymgmr.2021.100739', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S2764617610', 'display_name': 'Molecular Genetics and Metabolism Reports', 'issn_l': '2214-4269', 'issn': ['2214-4269'], 'is_oa': True, 'is_in_doaj': True, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320990', 'host_organization_name': 'Elsevier BV', 'host_organization_lineage': ['https://openalex.org/P4310320990'], 'host_organization_lineage_names': ['Elsevier BV'], 'type': 'journal'}, 'license': 'cc-by', 'license_id': 'https://openalex.org/licenses/cc-by', 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, {'is_oa': False, 'landing_page_url': 'https://doaj.org/article/0f6fefe8563540edaac2de5e24b5cfc2', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S4306401280', 'display_name': 'DOAJ (DOAJ: Directory of Open Access Journals)', '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': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}, {'is_oa': True, 'landing_page_url': 'https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7941164', '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': 'publishedVersion', 'is_accepted': True, 'is_published': True}], 'best_oa_location': {'is_oa': True, 'landing_page_url': 'https://doi.org/10.1016/j.ymgmr.2021.100739', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S2764617610', 'display_name': 'Molecular Genetics and Metabolism Reports', 'issn_l': '2214-4269', 'issn': ['2214-4269'], 'is_oa': True, 'is_in_doaj': True, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320990', 'host_organization_name': 'Elsevier BV', 'host_organization_lineage': ['https://openalex.org/P4310320990'], 'host_organization_lineage_names': ['Elsevier BV'], 'type': 'journal'}, 'license': 'cc-by', 'license_id': 'https://openalex.org/licenses/cc-by', 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, 'sustainable_development_goals': [{'id': 'https://metadata.un.org/sdg/3', 'display_name': 'Good health and well-being', 'score': 0.84}], 'grants': [], 'datasets': [], 'versions': [], 'referenced_works_count': 18, 'referenced_works': ['https://openalex.org/W1999365979', 'https://openalex.org/W2006281673', 'https://openalex.org/W2012273060', 'https://openalex.org/W2047291454', 'https://openalex.org/W2047565728', 'https://openalex.org/W2068262899', 'https://openalex.org/W2086233417', 'https://openalex.org/W2106425927', 'https://openalex.org/W2119660486', 'https://openalex.org/W2121343109', 'https://openalex.org/W2137234884', 'https://openalex.org/W2155503300', 'https://openalex.org/W2212480370', 'https://openalex.org/W2621349821', 'https://openalex.org/W2885654157', 'https://openalex.org/W2917318257', 'https://openalex.org/W2954733188', 'https://openalex.org/W3019923310'], 'related_works': ['https://openalex.org/W3204405849', 'https://openalex.org/W3203590990', 'https://openalex.org/W3119601781', 'https://openalex.org/W2147612731', 'https://openalex.org/W2141322398', 'https://openalex.org/W2107766190', 'https://openalex.org/W2103574220', 'https://openalex.org/W2059319138', 'https://openalex.org/W1975456036', 'https://openalex.org/W1971365671'], 'abstract_inverted_index': {'Niemann-Pick': [0], 'disease': [1, 106, 131], 'Type': [2], 'C': [3], '(NPC)': [4], 'is': [5, 30, 60, 78], 'a': [6, 33, 166], 'rare': [7], 'autosomal': [8], 'recessive': [9], 'neurovisceral': [10], 'lysosomal': [11], 'disorder.': [12], 'Perinatal': [13], 'and': [14, 42, 137], 'early': [15, 88, 125, 134, 158], 'infantile': [16, 28, 89, 135], 'onset': [17], 'NPC': [18, 90, 136], 'are': [19], 'the': [20, 25, 56, 93, 111, 121, 130, 146, 155, 163], 'most': [21], 'severe': [22], 'types': [23], 'of': [24, 113, 115, 124, 133, 148, 157, 162, 165], 'disease.': [26], 'Early': [27], 'type': [29], 'characterized': [31], 'by': [32], 'rapidly': [34], 'progressive': [35], 'neurodegenerative': [36], 'course,': [37], 'which': [38], 'entails': [39], 'significant': [40, 122], 'morbidity': [41], 'usually': [43], 'results': [44], 'in': [45, 68, 100, 129, 160], 'death': [46], 'within': [47], '5': [48], 'years.': [49], 'Miglustat,': [50], 'an': [51], 'iminosugar': [52], 'that': [53, 139], 'selectively': [54], 'inhibits': [55], 'glycosylceramide': [57], 'synthase': [58], 'enzyme,': [59], 'known': [61], 'to': [62, 80, 92], 'stabilize': [63], 'or': [64], 'delay': [65], 'neurological': [66, 105, 149], 'progression': [67], 'individuals': [69], 'with': [70, 87, 127], 'NPC,': [71], 'but': [72], 'its': [73], 'impact': [74], 'on': [75, 110], 'affected': [76], 'infants': [77], 'yet': [79], 'be': [81, 142], 'elucidated.': [82], 'We': [83], 'present': [84], 'two': [85], 'siblings': [86], 'due': [91], 'previously': [94], 'reported': [95], 'devastating': [96], 'homozygous': [97], 'mutation': [98], 'c.2279_2281delTCT': [99], 'NPC1.': [101], 'Their': [102], 'considerably': [103], 'discrepant': [104], 'courses': [107], 'were': [108], 'dependent': [109], 'timing': [112], 'initiation': [114], 'miglustat': [116, 128], 'treatment.': [117], 'The': [118], 'outcomes': [119], 'support': [120], 'role': [123], 'treatment': [126], 'course': [132], 'suggest': [138], 'therapy': [140], 'should': [141], 'considered': [143], 'even': [144], 'before': [145], 'occurrence': [147], 'involvement.': [150], 'Moreover,': [151], 'this': [152], 'report': [153], 'emphasizes': [154], 'importance': [156], 'diagnosis,': [159], 'light': [161], 'availability': [164], 'potential': [167], 'disease-modifying': [168], 'medication.': [169]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W3135344376', 'counts_by_year': [{'year': 2024, 'cited_by_count': 5}, {'year': 2023, 'cited_by_count': 2}, {'year': 2022, 'cited_by_count': 1}], 'updated_date': '2025-01-10T15:13:47.886094', 'created_date': '2021-03-15'}