DEGS1-related leukodystrophy: a clinical report and review of literature
Published 2023 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
DEGS1-related leukodystrophy: a clinical report and review of literature
Authors
Keywords
-
Journal
CLINICAL DYSMORPHOLOGY
Volume 32, Issue 3, Pages 106-111
Publisher
Ovid Technologies (Wolters Kluwer Health)
Online
2023-05-17
DOI
10.1097/mcd.0000000000000457
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Thyroid Hormone Decreases Hepatic Steatosis, Inflammation, and Fibrosis in a Dietary Mouse Model of Nonalcoholic Steatohepatitis
- (2022) Jin Zhou et al. THYROID
- Genetic analysis of 20 patients with hypomyelinating leukodystrophy by trio-based whole-exome sequencing
- (2021) Huifang Yan et al. JOURNAL OF HUMAN GENETICS
- Genetic testing of leukodystrophies unraveling extensive heterogeneity in a large cohort and report of five common diseases and 38 novel variants
- (2021) Nejat Mahdieh et al. Scientific Reports
- Effective variant filtering and expected candidate variant yield in studies of rare human disease
- (2021) Brent S. Pedersen et al. npj Genomic Medicine
- Singapore Undiagnosed Disease Program: Genomic Analysis aids Diagnosis and Clinical Management
- (2020) Neha S Bhatia et al. ARCHIVES OF DISEASE IN CHILDHOOD
- Genetic disorders with central nervous system white matter abnormalities: An update
- (2020) Anju Shukla et al. CLINICAL GENETICS
- Practical Approaches and Knowledge Gaps in the Care for Children With Leukodystrophies
- (2020) Stephanie R. Keller et al. JOURNAL OF CHILD NEUROLOGY
- Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy
- (2019) Devesh C. Pant et al. JOURNAL OF CLINICAL INVESTIGATION
- DEGS1-associated aberrant sphingolipid metabolism impairs nervous system function in humans
- (2019) Gergely Karsai et al. JOURNAL OF CLINICAL INVESTIGATION
- DEGS1 variant causes neurological disorder
- (2019) Vadim Dolgin et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Rare DEGS1 variant significantly alters de novo ceramide synthesis pathway
- (2019) Nicholas B. Blackburn et al. JOURNAL OF LIPID RESEARCH
- ClinVar: improving access to variant interpretations and supporting evidence
- (2017) Melissa J Landrum et al. NUCLEIC ACIDS RESEARCH
- Genetic heterogeneity in 26 infants with a hypomyelinating leukodystrophy
- (2015) Natsuko Arai-Ichinoi et al. HUMAN GENETICS
- Case definition and classification of leukodystrophies and leukoencephalopathies
- (2015) Adeline Vanderver et al. MOLECULAR GENETICS AND METABOLISM
- Emerging Treatments for Pediatric Leukodystrophies
- (2015) Guy Helman et al. PEDIATRIC CLINICS OF NORTH AMERICA
- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
- (2010) K. Wang et al. NUCLEIC ACIDS RESEARCH
- DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources
- (2009) Helen V. Firth et al. AMERICAN JOURNAL OF HUMAN GENETICS
Find the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
SearchCreate your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create Now