Farber lipogranulomatosis type 1 – Late presentation and early death in a Croatian boy with a novel homozygous ASAH1 mutation-Reference-Cited by-同舟云学术

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Farber lipogranulomatosis type 1 – Late presentation and early death in a Croatian boy with a novel homozygous ASAH1 mutation

Published:2011-03 Issue:2 Volume:15 Page:171-173
ISSN:1090-3798
Container-title:European Journal of Paediatric Neurology
language:en
Short-container-title:European Journal of Paediatric Neurology

Author:

Cvitanovic-Sojat L.,Juraski R. Gjergja,Sabourdy F.,Fensom A.H.,Fumic K.,Paschke E.,Levade T.

Publisher

Elsevier BV

Subject

Clinical Neurology,General Medicine,Pediatrics, Perinatology, and Child Health

Reference5 articles.

1. Molecular analysis of acid ceramidase deficiency in patients with Farber disease;Bär;Hum Mutat,2001

2. Farber lipogranulomatosis: clinical and molecular genetic analysis reveals a novel mutation in an Indian family;Devi;J Hum Genet,2006

3. Acid ceramidase deficiency: Farber lipogranulomatosis;Levade,2009

4. Sulfatide and sphingomyelin loading of living cells as tools for the study of ceramide turnover by lysosomal ceramidase – implications for the diagnosis of Farber disease;Levade;Biochem Mol Med,1995

5. Neurodegenerative course in ceramidase deficiency (Farber disease) correlates with the residual lysosomal ceramide turnover in cultured living patient cells;Levade;J Neurol Sci,1995

Cited by 13 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. Acid Ceramidase Deficiency: Bridging Gaps between Clinical Presentation, Mouse Models, and Future Therapeutic Interventions;Biomolecules;2023-02-01

2. Bioinformatics Analysis of Functional SNPs in Human ASAH1 Gene Related to Farber Disease;Russian Journal of Genetics;2022-02

3. Lysosomal Storage Disorders;Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics;2021

4. Acid ceramidase deficiency: Farber lipogranulomatosis, spinal muscular atrophy associated with progressive myoclonic epilepsy and peripheral osteolysis;Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease;2020

5. Allogeneic hematopoietic cell transplantation in Farber disease;Journal of Inherited Metabolic Disease;2019-02-27

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