Sjögren‐Larsson syndrome: The mild end of the phenotypic spectrum-Reference-Cited by-同舟云学术

Sjögren‐Larsson syndrome: The mild end of the phenotypic spectrum

Published:2020-03-25 Issue:1 Volume:53 Page:61-70
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Staps Pippa¹^ORCID,Gaalen Judith²,Domburg Peter.³,Steijlen Peter M.⁴,Ferdinandusse Sacha⁵,Heijer Tom⁶,Seyger Marieke M. B.⁷,Theelen Thomas⁸,Willemsen Michèl A. A. P.¹

Affiliation:

1. Department of Pediatric Neurology Radboud University Medical Center, Amalia Children's Hospital, Donders Institute for Brain Cognition and Behaviour Nijmegen The Netherlands

2. Department of Neurology, Donders Institute for Brain Cognition and Behaviour Radboud University Medical Center Nijmegen The Netherlands

3. Department of Neurology Zuyderland Medical Center Sittard The Netherlands

4. Department of Dermatology, The GROW School for Oncology and Developmental Biology Maastricht University Medical Center Maastricht The Netherlands

5. Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology & Metabolism Amsterdam UMC, University of Amsterdam Amsterdam The Netherlands

6. Department of Neurology Franciscus Gasthuis and Vlietland Rotterdam The Netherlands

7. Department of Dermatology Radboud University Medical Center Nijmegen The Netherlands

8. Department of Ophthalmology, Donders Institute for Brain Cognition and Behaviour Radboud University Medical Center Nijmegen The Netherlands

Publisher

Wiley

Subject

Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12099

Reference35 articles.

1. Oligophrenia in combination with congenital ichthyosis and spastic disorders; a clinical and genetic study;Sjögren T;Acta Psychiatr Neurol Scand Suppl,1957

2. Sjögren-Larsson syndrome. Impaired fatty alcohol oxidation in cultured fibroblasts due to deficient fatty alcohol:nicotinamide adenine dinucleotide oxidoreductase activity.

3. Sjögren–Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene

4. Clinical, biochemical, and genetic aspects of Sjögren-Larsson syndrome

5. Phenotypic Variability Among Adult Siblings With Sjögren-Larsson Syndrome

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4. A Neurodegenerative Phenotype Associated With Sjögren-Larsson Syndrome;Journal of Child Neurology;2021-07-28

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