Adrenoleukodystrophy in female heterozygotes: Underrecognized and undertreated-Reference-Cited by-同舟云学术

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Adrenoleukodystrophy in female heterozygotes: Underrecognized and undertreated

Published:2012-02 Issue:2 Volume:105 Page:180-185
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Jangouk Parastoo,Zackowski Kathleen M.,Naidu Sakkubai,Raymond Gerald V.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference67 articles.

1. X-linked adrenoleukodystrophy;Moser;Nat. Clin. Pract. Neurol.,2007

2. Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters;Mosser;Nature,1993

3. ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations;Kemp;Hum. Mutat.,2001

4. Adrenoleukodystrophy: phenotype, genetics, pathogenesis and therapy;Moser;Brain,1997

5. Evolution of phenotypes in adult male patients with X-linked adrenoleukodystrophy;van Geel;Ann. Neurol.,2001

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1. Lipidomic biomarkers in plasma correlate with disease severity in adrenoleukodystrophy;Communications Medicine;2024-09-10

2. X-linked adrenoleukodystrophy and primary adrenal insufficiency;Frontiers in Endocrinology;2023-11-16

3. Phenotypic Characterization of Female Carrier Mice Heterozygous for Tafazzin Deletion;Biology;2023-09-14

4. High incidence of null variants identified from newborn screening of X-linked adrenoleukodystrophy in Taiwan;Molecular Genetics and Metabolism Reports;2022-09

5. ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy;The Application of Clinical Genetics;2022-08

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