Recovery of enzyme activity in biotinidase deficient individuals during early childhood-Reference-Cited by-同舟云学术

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Recovery of enzyme activity in biotinidase deficient individuals during early childhood

Published:2022-03-03 Issue:3 Volume:45 Page:605-620
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J of Inher Metab Disea

Author:

Forny Patrick¹^ORCID,Wicht Andrea¹,Rüfenacht Véronique¹,Cremonesi Alessio²,Häberle Johannes¹

Affiliation:

1. Division of Metabolism and Children’s Research Center University Children’s Hospital Zurich, University of Zurich Zurich Switzerland

2. Division of Clinical Biochemistry and Swiss Newborn Screening University Children’s Hospital Zurich, University of Zurich Zurich Switzerland

Funder

Julius Klaus-Stiftung für Genetik und Sozialanthropologie

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12490

Reference33 articles.

1. Biotinidase deficiency: “if you have to have an inherited metabolic disease, this is the one to have”

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Biotinidase deficiency: A treatable neurometabolic disorder;Brain and Development Case Reports;2024-06

2. A different approach to the evaluation of the genotype-phenotype relationship in biotinidase deficiency: repeated measurement of biotinidase enzyme activity;Journal of Pediatric Endocrinology and Metabolism;2023-09-20

3. A Different Approach to the Evaluation of the Genotype-Phenotype Relationship in Biotinidase Deficiency: Repeated Measurement of Biotinidase Enzyme Activity;2023-07-14

4. High Incidence of Partial Biotinidase Deficiency in the First 3 Years of a Regional Newborn Screening Program in Italy;International Journal of Environmental Research and Public Health;2022-07-02

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