Global Variome shared LOVD

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

Phenotype #0000014969 Individual ID 00016370 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset - Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis - Phenotype/Onset - Phenotype details detected by newborn screening; wide sylvian fissures; increased T2 signal in putamina; mild hypotonia Protein - Biochem glutarylcarnitine(blood): 1.1+/-0.46 µmol/l (c:0.0-0.7); 3-OH-GA(urine): 111+/-82 mmol/mol creatinine; GA(urine): 726+/-1222 mmol/mol creatinine (high excretors: GA > 100mmol/mol creatinine) Enzyme/Activity - Owner name Svenja Wagner Database submission license No license selected Created by Svenja Wagner Date created 2014-03-27 19:14:48 +01:00 (CET) Date last edited 2014-04-09 15:14:40 +02:00 (CEST)

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