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Summary
CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE
CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT TYPE
302950
OMIM = Online Medalian Inheritance of Men
79345
Xp22.33
rare
X-linked recessive
mutation in the arylsulfatase E gene
symptoms
cataract
hearing defect, deafness
ichthyosis
mental retardation
nasal hypoplasia
short stature
X-ray, abnormalities
laboratory finding
Steroid sulfatase 100.00decreased activityfibroblasts
Literature
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Kondo Met al.Porphyrias in Japan: compilation of all cases reported through 2002Int J Hematol795448-4562004
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Aoyama Tet al.Purification of human very-long-chain acyl-coenzyme A dehydrogenase and chracterization of its deficiency in seven patientsJ Clin Invest9562465-731995
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Onkenhout Wet al.Identification and quantification of intermediates of unsaturated fatty acid metabolism in plasma of patients with fatty acid oxidation disordersClin Chem4101467-14741995
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Kondo Met al.Porphyrias in Japan: compilation of all cases reported through 2002Int J Hematol795448-4562004
Bertrand Cet al.Very long chain acyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid oxidation in fibroblastsBiochem Biophys Acta11800327-3291993
Tein Iet al.Short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency in muscle: a new cause for recurrent myoglobinuria and encephalopathyAnn Neurol300415-4191991
Vredendaal PJet al.Human short-chain L-3-hydroxyacyl-CoA dehydrogenase: clining and characterization of the coding sequenceBiochem Biophys Res Commun2230718-7231996