Results 1 -
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34
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Inborn genetic diseases
- ... WG, Hogg R, Gonsoulin W. Fetal polycystic kidney disease associated with glutaric aciduria type II: an inborn error of energy metabolism. Am J Perinatol. 1996 Apr;13(3):131-4. doi: 10.1055/s-2007-994309. Citation on PubMed
- ... synthetase I deficiency belongs to a class of genetic diseases called urea cycle disorders. In this condition, the ... I deficiency disease Carbamyl-phosphate synthetase I deficiency disease Congenital hyperammonemia, type I ... Genetic Testing Registry: Congenital hyperammonemia, type I Carbamoyl-phosphate ...
- ... arginase.Arginase deficiency belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is ... symptoms of the condition. ARG1 deficiency Arginase deficiency disease Argininemia Hyperargininemia Genetic Testing Registry: Arginase deficiency Argininemia National Organization for ...
- ... alpha-ketoglutarate reductase deficiency disease Saccharopine dehydrogenase deficiency disease Saccharopinuria Genetic Testing Registry: Hyperlysinemia Genetic Testing Registry: Saccharopinuria Hyperlysinemia ...
- ... have similar signs and symptoms, but Fazio-Londe disease does not include sensorineural hearing loss. Because these two conditions share a genetic cause and have overlapping features, researchers determined that ...
- ... to their sons. Congenital agranulocytosis Congenital neutropenia Infantile genetic agranulocytosis Kostmann disease Kostmann's agranulocytosis Kostmann's syndrome Severe infantile ...
- ... family RFVT/SLC52: identification, nomenclature, functional characterization and genetic diseases of RFVT/SLC52. Mol Aspects Med. 2013 Apr-Jun;34(2-3):693-701. doi: 10.1016/j.mam.2012.07.014. Citation on PubMed
- ... methionine synthase activities Genetic Testing Registry: Cobalamin C disease Genetic Testing Registry: Methylmalonic aciduria and homocystinuria type cblD ...
- ... mental retardation syndrome Juvenile hyperuricemia syndrome Lesch-Nyhan disease LND LNS Primary hyperuricemia syndrome ... Lesch-Nyhan syndrome ...
- ... of the disorder in their family. Basal ganglia disease, adult-onset Ferritin-related neurodegeneration Hereditary ferritinopathy NBIA3 Neurodegeneration with brain iron accumulation 3 Genetic Testing Registry: Neuroferritinopathy Neuroferritinopathy National Organization for Rare ...