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patients referred with a preliminary diagnosis of biotinidase deficiency by the national newborn metabolic screening program: a single-center experience.", "journal": "Journal of pediatric endocrinology & metabolism : JPEM", "date": "2023-06-27", "authors": "Erdol Sahin, Kocak Tugba Akbey, Bilgin Huseyin", "reference": { "type": "PubMed", "id": "37119528", "url": "https://pubmed.ncbi.nlm.nih.gov/37119528" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P43251-4", "protein_name": "Biotinidase", "gene_name": "BTD", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P43251", "url": "https://www.uniprot.org/uniprotkb/P43251" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.37119528", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { 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Meng Lanlan, Tan Chen, He Wenbin, Tu Chaofeng, Du Juan, Lu Guang-Xiu, Lin Ge, Tan Yue-Qiu, Hu Tong-Yao", "reference": { "type": "PubMed", "id": "38342987", "url": "https://pubmed.ncbi.nlm.nih.gov/38342987" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q5H9F3-3", "protein_name": "BCL-6 corepressor-like protein 1", "gene_name": "BCORL1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P63208-1", "protein_name": "S-phase kinase-associated protein 1", "gene_name": "SKP1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5H9F3", "url": "https://www.uniprot.org/uniprotkb/Q5H9F3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.38342987", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", 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