Related Experiment Videos

[Treatment of cystinosis with cysteamine]

J J Louis, P Guibaud, R Dumoulin

Presse Medicale (Paris, France : 1983)

|January 22, 1983

Abstract

No abstract available in PubMed .

Related Concept Videos

Articles linked to this work by shared authors, journal, and citation graph.

Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution.

Journal of neurology, neurosurgery, and psychiatry·2014

[Not Available].

International journal of cosmetic science·2009

Pathogenicity of missense mutations in SURF1 deficiency inducing the Leigh syndrome. Importance in diagnosis.

Mitochondrion·2005

Outcome of 27 patients with Hurler's syndrome transplanted from either related or unrelated haematopoietic stem cell sources.

Bone marrow transplantation·2003

Oxidation of unsaturated fatty acids by human fibroblasts with very-long-chain acyl-CoA dehydrogenase deficiency: aspects of substrate specificity and correlation with clinical phenotype.

Clinica chimica acta; international journal of clinical chemistry·2001

Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease.

Annals of neurology·2001

See all related articles