Publication Information

{'id': 'https://openalex.org/W2094888667', 'doi': 'https://doi.org/10.1002/1096-8628(2001)9999:9999<::aid-ajmg1145>3.0.co;2-z', 'title': 'Two novelCLN2 gene mutations in a Chinese patient with classical late-infantile neuronal ceroid lipofuscinosis', 'display_name': 'Two novelCLN2 gene mutations in a Chinese patient with classical late-infantile neuronal ceroid lipofuscinosis', 'publication_year': 2001, 'publication_date': '2001-01-01', 'ids': {'openalex': 'https://openalex.org/W2094888667', 'doi': 'https://doi.org/10.1002/1096-8628(2001)9999:9999<::aid-ajmg1145>3.0.co;2-z', 'mag': '2094888667', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/11241479'}, 'language': 'en', 'primary_location': {'is_oa': False, 'landing_page_url': 'https://doi.org/10.1002/1096-8628(2001)9999:9999<::aid-ajmg1145>3.0.co;2-z', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S4210224978', 'display_name': 'American Journal of Medical Genetics', 'issn_l': '0148-7299', 'issn': ['0148-7299', '1096-8628'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320595', 'host_organization_name': 'Wiley', 'host_organization_lineage': ['https://openalex.org/P4310320595'], 'host_organization_lineage_names': ['Wiley'], 'type': 'journal'}, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}, 'type': 'letter', 'type_crossref': 'journal-article', 'indexed_in': ['crossref', 'pubmed'], 'open_access': {'is_oa': False, 'oa_status': 'closed', 'oa_url': None, 'any_repository_has_fulltext': False}, 'authorships': [{'author_position': 'first', 'author': {'id': 'https://openalex.org/A5109930335', 'display_name': 'Ching‐Wan Lam', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I177725633', 'display_name': 'Chinese University of Hong Kong', 'ror': 'https://ror.org/00t33hh48', 'country_code': 'CN', 'type': 'education', 'lineage': ['https://openalex.org/I177725633']}, {'id': 'https://openalex.org/I4210114914', 'display_name': 'Prince of Wales Hospital', 'ror': 'https://ror.org/02827ca86', 'country_code': 'CN', 'type': 'healthcare', 'lineage': ['https://openalex.org/I1294586568', 'https://openalex.org/I4210114914']}], 'countries': ['CN'], 'is_corresponding': False, 'raw_author_name': 'Ching-Wan Lam', 'raw_affiliation_strings': ['Department of Chemical Pathology Chinese University of Hong Kong Prince of Wales Hospital Hong Kong, China'], 'affiliations': [{'raw_affiliation_string': 'Department of Chemical Pathology Chinese University of Hong Kong Prince of Wales Hospital Hong Kong, China', 'institution_ids': ['https://openalex.org/I177725633', 'https://openalex.org/I4210114914']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5049182537', 'display_name': 'Priscilla M.K. Poon', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I177725633', 'display_name': 'Chinese University of Hong Kong', 'ror': 'https://ror.org/00t33hh48', 'country_code': 'CN', 'type': 'education', 'lineage': ['https://openalex.org/I177725633']}, {'id': 'https://openalex.org/I4210114914', 'display_name': 'Prince of Wales Hospital', 'ror': 'https://ror.org/02827ca86', 'country_code': 'CN', 'type': 'healthcare', 'lineage': ['https://openalex.org/I1294586568', 'https://openalex.org/I4210114914']}], 'countries': ['CN'], 'is_corresponding': False, 'raw_author_name': 'Priscilla Miu-Kuen Poon', 'raw_affiliation_strings': ['Department of Chemical Pathology Chinese University of Hong Kong Prince of Wales Hospital Hong Kong, China'], 'affiliations': [{'raw_affiliation_string': 'Department of Chemical Pathology Chinese University of Hong Kong Prince of Wales Hospital Hong Kong, China', 'institution_ids': ['https://openalex.org/I177725633', 'https://openalex.org/I4210114914']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5109992370', 'display_name': 'Sui-Fan Tong', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I177725633', 'display_name': 'Chinese University of Hong Kong', 'ror': 'https://ror.org/00t33hh48', 'country_code': 'CN', 'type': 'education', 'lineage': ['https://openalex.org/I177725633']}, {'id': 'https://openalex.org/I4210114914', 'display_name': 'Prince of Wales Hospital', 'ror': 'https://ror.org/02827ca86', 'country_code': 'CN', 'type': 'healthcare', 'lineage': ['https://openalex.org/I1294586568', 'https://openalex.org/I4210114914']}], 'countries': ['CN'], 'is_corresponding': False, 'raw_author_name': 'Sui-Fan Tong', 'raw_affiliation_strings': ['Department of Chemical Pathology Chinese University of Hong Kong Prince of Wales Hospital Hong Kong, China'], 'affiliations': [{'raw_affiliation_string': 'Department of Chemical Pathology Chinese University of Hong Kong Prince of Wales Hospital Hong Kong, China', 'institution_ids': ['https://openalex.org/I177725633', 'https://openalex.org/I4210114914']}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5113725230', 'display_name': 'Chun-Hung Ko', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I2802874812', 'display_name': 'Caritas Medical Centre', 'ror': 'https://ror.org/01zqztb27', 'country_code': 'CN', 'type': 'healthcare', 'lineage': ['https://openalex.org/I1294586568', 'https://openalex.org/I2802874812']}], 'countries': ['CN'], 'is_corresponding': False, 'raw_author_name': 'Chun-Hung Ko', 'raw_affiliation_strings': ['Department of Pediatrics, Caritas Medical Center, Hong Kong, China'], 'affiliations': [{'raw_affiliation_string': 'Department of Pediatrics, Caritas Medical Center, Hong Kong, China', 'institution_ids': ['https://openalex.org/I2802874812']}]}], 'institution_assertions': [], 'countries_distinct_count': 1, 'institutions_distinct_count': 3, 'corresponding_author_ids': [], 'corresponding_institution_ids': [], 'apc_list': None, 'apc_paid': None, 'fwci': None, 'has_fulltext': True, 'fulltext_origin': 'ngrams', 'cited_by_count': 12, 'citation_normalized_percentile': {'value': 0.784367, 'is_in_top_1_percent': False, 'is_in_top_10_percent': False}, 'cited_by_percentile_year': {'min': 81, 'max': 82}, 'biblio': {'volume': '99', 'issue': '2', 'first_page': '161', 'last_page': '163'}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T10945', 'display_name': 'Lysosomal Storage Disorders Research', 'score': 0.9999, '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': 0.9999, '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/T12387', 'display_name': 'Galectins and Cancer Biology', 'score': 0.9989, 'subfield': {'id': 'https://openalex.org/subfields/2403', 'display_name': 'Immunology'}, 'field': {'id': 'https://openalex.org/fields/24', 'display_name': 'Immunology and Microbiology'}, 'domain': {'id': 'https://openalex.org/domains/1', 'display_name': 'Life Sciences'}}, {'id': 'https://openalex.org/T10602', 'display_name': 'Glycosylation and Glycoproteins Research', 'score': 0.9892, 'subfield': {'id': 'https://openalex.org/subfields/1312', 'display_name': 'Molecular Biology'}, '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'}}], 'keywords': [{'id': 'https://openalex.org/keywords/chemical-pathology', 'display_name': 'Chemical pathology', 'score': 0.43147096}], 'concepts': [{'id': 'https://openalex.org/C191935318', 'wikidata': 'https://www.wikidata.org/wiki/Q148', 'display_name': 'China', 'level': 2, 'score': 0.7010325}, {'id': 'https://openalex.org/C71924100', 'wikidata': 'https://www.wikidata.org/wiki/Q11190', 'display_name': 'Medicine', 'level': 0, 'score': 0.5705856}, {'id': 'https://openalex.org/C2909353277', 'wikidata': 'https://www.wikidata.org/wiki/Q849994', 'display_name': 'Chemical pathology', 'level': 2, 'score': 0.43147096}, {'id': 'https://openalex.org/C512399662', 'wikidata': 'https://www.wikidata.org/wiki/Q3505712', 'display_name': 'Family medicine', 'level': 1, 'score': 0.34822533}, {'id': 'https://openalex.org/C95457728', 'wikidata': 'https://www.wikidata.org/wiki/Q309', 'display_name': 'History', 'level': 0, 'score': 0.27766}, {'id': 'https://openalex.org/C142724271', 'wikidata': 'https://www.wikidata.org/wiki/Q7208', 'display_name': 'Pathology', 'level': 1, 'score': 0.189168}, {'id': 'https://openalex.org/C166957645', 'wikidata': 'https://www.wikidata.org/wiki/Q23498', 'display_name': 'Archaeology', 'level': 1, 'score': 0.10484862}], 'mesh': [{'descriptor_ui': 'D009154', 'descriptor_name': 'Mutation', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D009472', 'descriptor_name': 'Neuronal Ceroid-Lipofuscinoses', 'qualifier_ui': 'Q000201', 'qualifier_name': 'enzymology', 'is_major_topic': True}, {'descriptor_ui': 'D010447', 'descriptor_name': 'Peptide Hydrolases', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D000626', 'descriptor_name': 'Aminopeptidases', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D044466', 'descriptor_name': 'Asians', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D001483', 'descriptor_name': 'Base Sequence', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D002675', 'descriptor_name': 'Child, Preschool', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D004247', 'descriptor_name': 'DNA', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D004252', 'descriptor_name': 'DNA Mutational Analysis', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D004152', 'descriptor_name': 'Dipeptidyl-Peptidases and Tripeptidyl-Peptidases', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D010450', 'descriptor_name': 'Endopeptidases', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D005091', 'descriptor_name': 'Exons', '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': 'D008297', 'descriptor_name': 'Male', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D008969', 'descriptor_name': 'Molecular Sequence Data', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D009472', 'descriptor_name': 'Neuronal Ceroid-Lipofuscinoses', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D009472', 'descriptor_name': 'Neuronal Ceroid-Lipofuscinoses', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D010447', 'descriptor_name': 'Peptide Hydrolases', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D017422', 'descriptor_name': 'Sequence Analysis, DNA', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D057057', 'descriptor_name': 'Serine Proteases', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D000091346', 'descriptor_name': 'Tripeptidyl-Peptidase 1', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}], 'locations_count': 2, 'locations': [{'is_oa': False, 'landing_page_url': 'https://doi.org/10.1002/1096-8628(2001)9999:9999<::aid-ajmg1145>3.0.co;2-z', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S4210224978', 'display_name': 'American Journal of Medical Genetics', 'issn_l': '0148-7299', 'issn': ['0148-7299', '1096-8628'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320595', 'host_organization_name': 'Wiley', 'host_organization_lineage': ['https://openalex.org/P4310320595'], 'host_organization_lineage_names': ['Wiley'], 'type': 'journal'}, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}, {'is_oa': False, 'landing_page_url': 'https://pubmed.ncbi.nlm.nih.gov/11241479', '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': None, 'sustainable_development_goals': [{'display_name': 'Quality education', 'score': 0.5, 'id': 'https://metadata.un.org/sdg/4'}], 'grants': [], 'datasets': [], 'versions': [], 'referenced_works_count': 10, 'referenced_works': ['https://openalex.org/W1597077894', 'https://openalex.org/W1964040548', 'https://openalex.org/W2011950472', 'https://openalex.org/W2020278806', 'https://openalex.org/W2052335394', 'https://openalex.org/W2077654997', 'https://openalex.org/W2081948380', 'https://openalex.org/W2089206888', 'https://openalex.org/W2091927674', 'https://openalex.org/W2110574733'], 'related_works': ['https://openalex.org/W4389568370', 'https://openalex.org/W3108674512', 'https://openalex.org/W3032375762', 'https://openalex.org/W3031052312', 'https://openalex.org/W2748952813', 'https://openalex.org/W2148612803', 'https://openalex.org/W2080531066', 'https://openalex.org/W1995515455', 'https://openalex.org/W1506200166', 'https://openalex.org/W1489783725'], 'abstract_inverted_index': {'American': [0], 'Journal': [1], 'of': [2, 38, 43, 47, 53, 58, 62, 80, 85, 89, 105, 110, 114, 130, 153, 158, 162, 168, 173, 177, 195, 200, 204, 220, 225, 229, 245, 288, 298, 311, 322], 'Medical': [3, 133, 248], 'GeneticsVolume': [4], '99,': [5], 'Issue': [6], '2': [7], 'p.': [8], '161-163': [9, 349], 'Letter': [10], 'to': [11, 272, 294, 317], 'the': [12, 266, 304, 314], 'Editor': [13], 'Two': [14], 'novel': [15], 'CLN2': [16], 'gene': [17], 'mutations': [18], 'in': [19], 'a': [20, 319, 334], 'Chinese': [21, 41, 56, 83, 108, 156, 171, 198, 223], 'patient': [22], 'with': [23, 325], 'classical': [24], 'late-infantile': [25], 'neuronal': [26], 'ceroid': [27], 'lipofuscinosis': [28], 'Ching-Wan': [29, 33, 144, 148], 'Lam,': [30, 145], 'Corresponding': [31, 146], 'Author': [32, 147], 'Lam': [34, 149], '[email': [35, 150], 'protected]': [36, 151], 'Department': [37, 79, 104, 129, 152, 194, 219, 244], 'Chemical': [39, 54, 81, 106, 154, 169, 196, 221], 'Pathology': [40, 82, 107, 155, 197, 222], 'University': [42, 57, 84, 109, 157, 172, 199, 224], 'Hong': [44, 50, 59, 65, 86, 92, 111, 117, 135, 159, 165, 174, 180, 201, 207, 226, 232, 250], 'Kong': [45, 87, 112, 160, 202, 227], 'Prince': [46, 61, 88, 113, 161, 176, 203, 228], 'Wales': [48, 63, 90, 115, 163, 178, 205, 230], 'Hospital': [49, 91, 116, 164, 206, 231], 'Kong,': [51, 60, 66, 93, 118, 136, 166, 175, 181, 208, 233, 251], 'ChinaDepartment': [52, 167], 'Pathology,': [55, 170], 'Hospital,': [64, 179], 'China.Search': [67, 182], 'for': [68, 95, 120, 138, 183, 210, 235, 253, 341], 'more': [69, 96, 121, 139, 184, 211, 236, 254], 'papers': [70, 97, 122, 140, 185, 212, 237, 255], 'by': [71, 98, 123, 141, 186, 213, 238, 256], 'this': [72, 99, 124, 142, 187, 214, 239, 257, 323, 342], 'authorPriscilla': [73, 188], 'Miu-Kuen': [74, 77, 189, 192], 'Poon,': [75, 190], 'Priscilla': [76, 191], 'Poon': [78, 193], 'ChinaSearch': [94, 119, 137, 209, 234, 252], 'authorSui-Fan': [100, 215], 'Tong,': [101, 216], 'Sui-Fan': [102, 217], 'Tong': [103, 218], 'authorChun-Hung': [125, 240], 'Ko,': [126, 241], 'Chun-Hung': [127, 242], 'Ko': [128, 243], 'Pediatrics': [131, 246], 'Caritas': [132, 247], 'Center': [134, 249], 'author': [143, 258], 'First': [259], 'published:': [260], '09': [261], 'February': [262], '2001': [263], 'https://doi.org/10.1002/1096-8628(2001)9999:9999<::AID-AJMG1145>3.0.CO;2-ZCitations:': [264], '9Read': [265], 'full': [267, 278], 'textAboutPDF': [268], 'ToolsRequest': [269], 'permissionExport': [270], 'citationAdd': [271], 'favoritesTrack': [273], 'citation': [274], 'ShareShare': [275], 'Give': [276], 'accessShare': [277, 280], 'text': [279], 'full-text': [281, 296, 320], 'accessPlease': [282], 'review': [283], 'our': [284], 'Terms': [285, 308], 'and': [286, 290, 302, 309, 328], 'Conditions': [287, 310], 'Use': [289], 'check': [291], 'box': [292], 'below': [293, 316], 'share': [295, 318], 'version': [297, 321], 'article.I': [299], 'have': [300], 'read': [301], 'accept': [303], 'Wiley': [305], 'Online': [306], 'Library': [307], 'UseShareable': [312], 'LinkUse': [313], 'link': [315], 'article': [324], 'your': [326], 'friends': [327], 'colleagues.': [329], 'Learn': [330], 'more.Copy': [331], 'URL': [332], 'Share': [333], 'linkShare': [335], 'onFacebookTwitterLinkedInRedditWechat': [336], 'No': [337], 'abstract': [338], 'is': [339], 'available': [340], 'article.Citing': [343], 'Literature': [344], 'Volume99,': [345], 'Issue21': [346], 'March': [347], '2001Pages': [348], 'RelatedInformation': [350]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W2094888667', 'counts_by_year': [{'year': 2023, 'cited_by_count': 1}, {'year': 2022, 'cited_by_count': 1}, {'year': 2021, 'cited_by_count': 1}, {'year': 2020, 'cited_by_count': 1}, {'year': 2019, 'cited_by_count': 1}], 'updated_date': '2024-12-21T19:07:28.370265', 'created_date': '2016-06-24'}