Outcomes of individuals with profound and partial biotinidase deficiency ascertained by newborn screening in Michigan over 25 years-Reference-Cited by-同舟云学术

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Outcomes of individuals with profound and partial biotinidase deficiency ascertained by newborn screening in Michigan over 25 years

Published:2015-03 Issue:3 Volume:17 Page:205-209
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Jay Allison M.,Conway Robert L.,Feldman Gerald L.,Nahhas Fatimah,Spencer Linda,Wolf Barry

Publisher

Elsevier BV

Subject

Genetics (clinical)

Link

http://www.nature.com/articles/gim2014104.pdf

Reference24 articles.

1. Animal biotinidase;Pispa;Ann Med Exp Biol Fenn,1965

2. Disorders of biotin metabolism.;Wolf,2001

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1. Case report of biotinidase deficiency in a 16-month-old child with emphasis on skin manifestations;Advances in Dermatology and Allergology;2024

2. Evaluation of clinical, laboratory, and molecular genetic features of patients with biotinidase deficiency;European Journal of Pediatrics;2023-12-23

3. Food or medicine? A European regulatory perspective on nutritional therapy products to treat inborn errors of metabolism;Journal of Inherited Metabolic Disease;2023-09-13

4. Delayed Biotin Therapy in a Child with Atypical Profound Biotinidase Deficiency: Late Arrival of the Truth and a Lesson Worth Thinking;International Journal of Molecular Sciences;2023-06-16

5. Biotinidase deficiency: What have we learned in forty years?;Molecular Genetics and Metabolism;2023-04

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