Biotin dependency due to a defect in biotin transport-Reference-Cited by-同舟云学术

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Biotin dependency due to a defect in biotin transport

Published:2002-06-15 Issue:12 Volume:109 Page:1617-1623
ISSN:0021-9738
Container-title:Journal of Clinical Investigation
language:en
Short-container-title:J. Clin. Invest.

Author:

Mardach Rebecca,Zempleni Janos,Wolf Barry,Cannon Martin J.,Jennings Michael L.,Cress Sally,Boylan Jane,Roth Susan,Cederbaum Stephen,Mock Donald M.

Publisher

American Society for Clinical Investigation

Subject

General Medicine

Reference38 articles.

1. Mutations in the Human Biotinidase Gene That Cause Profound Biotinidase Deficiency in Symptomatic Children: Molecular, Biochemical, and Clinical Analysis

2. Biotin Status: Which Are Valid Indicators and How Do We Know?

Cited by 63 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. Biotin Homeostasis and Human Disorders: Recent Findings and Perspectives;International Journal of Molecular Sciences;2024-06-14

2. Biotin attenuates heat shock factor 4b transcriptional activity by lysine 444 biotinylation;Biochemistry and Biophysics Reports;2022-07

3. Late Onset Subacute Profound Biotinidase Deficiency Caused by a Novel Homozygous Variant c.466-3T>G in the BTD Gene;Indian Journal of Pediatrics;2022-01-14

4. Novel biallelic variants expand the SLC5A6-related phenotypic spectrum;European Journal of Human Genetics;2022-01-11

5. Disorders of Biotin Metabolism;Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases;2022

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