A simple method for screening for Farber disease on cultured skin fibroblasts-Reference-Cited by-同舟云学术

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A simple method for screening for Farber disease on cultured skin fibroblasts

Published:1996-02 Issue:1 Volume:245 Page:61-71
ISSN:0009-8981
Container-title:Clinica Chimica Acta
language:en
Short-container-title:Clinica Chimica Acta

Author:

Chatelut Martine,Feunteun Jean,Harzer Klaus,Fensom Anthony H.,Basile Jean-Pierre,Salvayre Robert,Levade Thierry

Publisher

Elsevier BV

Subject

Biochemistry, medical,Clinical Biochemistry,Biochemistry,General Medicine

Reference39 articles.

1. Ceramidase deficiency: Farber lipogranulomatosis;Moser,1989

2. Ceramidase deficiency in Farber's disease (lipogranulomatosis);Sugita;Science,1972

3. Diagnosis of lipogranulomatosis (Farber disease) by use of cultured fibroblasts;Dulaney;J Pediatr,1976

4. Prenatal diagnosis of Farber 's disease;Fensom;Lancet,1979

5. Enzymic hydrolysis and synthesis of ceramides;Gatt;J Biol Chem,1963

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2. Prenatal Diagnosis of Disorders of Lipid Metabolism;Genetic Disorders and the Fetus;2021-04-20

3. ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy;Human Mutation;2020-06-24

4. Parallel Reaction Monitoring reveals structure-specific ceramide alterations in the zebrafish;Scientific Reports;2019-12

5. Acid ceramidase deficiency: Farber disease and SMA-PME;Orphanet Journal of Rare Diseases;2018-07-20

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