Multiple Endocrine Disorders Associated With Adrenomyeloneuropathy and a Novel Mutation of the ABCD1 Gene-Reference-Cited by-同舟云学术

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Multiple Endocrine Disorders Associated With Adrenomyeloneuropathy and a Novel Mutation of the ABCD1 Gene

Published:2014-06 Issue:6 Volume:50 Page:622-624
ISSN:0887-8994
Container-title:Pediatric Neurology
language:en
Short-container-title:Pediatric Neurology

Author:

Triantafyllou Panagiota,Economou Marina,Vlachaki Euthymia,Aggelaki Maria,Athanassiou-Mataxa Miranta,Michelakaki E.,Zafeiriou Dimitrios I.

Publisher

Elsevier BV

Subject

Neurology (clinical),Developmental Neuroscience,Neurology,Pediatrics, Perinatology and Child Health

Reference13 articles.

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

2. Identification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenomyeloneuropathy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes;Matsukawa;Neurogenetics,2011

3. Clinical aspects and adrenal functions in eleven Japanese children with X-linked adrenomyeloneuropathy;Miyoshi;Endocr J,2010

4. Adrenomyeloneuropathy;Cappa;Endocr Dev,2011

5. Pathomechanisms underlying X-adrenomyeloneuropathy: a three-hit hypothesis;Singh;Brain Pathol,2010

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1. X-linked cerebral adrenoleukodystrophy;BMJ Case Reports;2023-10

2. Alterazioni della crescita conseguenti a patologie surrenaliche insorte in età pediatrica;L'Endocrinologo;2023-05-17

3. Growth alterations in rare forms of primary adrenal insufficiency: a neglected issue in paediatric endocrinology;Endocrine;2022-10-30

4. Investigating ABCD1 mutations in a Taiwanese cohort with hereditary spastic paraplegia phenotype;Parkinsonism & Related Disorders;2021-11

5. A novel ABCD1 G1202A mutation in a Chinese patient with pure adrenomyeloneuropathy and literature review;Genes & Diseases;2021-09

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