Global Variome shared LOVD

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

Phenotype #0000345589 Individual ID 00457082 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset - Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis 05y02m Phenotype/Onset - Phenotype details Clinical findings: none Protein - Biochem [before/after treatment] C5DC (blood) 2.44 / 3.36 µmol/l, C5DC/C8 (blood ) 65 / 29.66, Glutaric acid (urine) 3,313.15 / 662.71 mmol/mol creatinine Enzyme/Activity - Owner name Sabrina Oeser Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Sabrina Oeser Date created 2024-10-30 17:13:33 +01:00 (CET) Date last edited N/A

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