Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000010374 Individual ID 00011687 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset 00y07m Diagnosis/Initial - Age/Examination 00y09m (9 months) Diagnosis/Definite - Age/Diagnosis - Phenotype/Onset - Phenotype details regression, dystonia, seizure, athetosis, macrocephaly, MRI: bilateral lentiform and caudate nucleus degeneration Protein - Biochem glutarylcarnitine(blood): 0.19 µM/L (c: 0.02-0.20); 3-OH-GA(urine): 24.69 (fold change vs. normal control); GA(urine): 1030.1 (fold change vs. normal control) Enzyme/Activity - Owner name Svenja Wagner Database submission license No license selected Created by Svenja Wagner Date created 2014-02-20 11:03:01 +01:00 (CET) Date last edited 2014-04-10 11:02:41 +02:00 (CEST)

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