Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 5 (of 5 Records) |
Query Trace: Aminoaciduria[original query] |
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The generalized aminoaciduria seen in patients with hepatocyte nuclear factor-1alpha mutations is a feature of all patients with diabetes and is associated with glucosuria. Diabetes 2001 Sep 50 (9): 2047-52. Bingham C, Ellard S, Nicholls A J, Pennock C A, Allen J, James A J, Satchell S C, Salzmann M B, Hattersley A |
ABCB6 (MTABC3) excluded as the causative gene for the growth retardation syndrome with aminoaciduria, cholestasis, iron overload, and lactacidosis. American journal of medical genetics 2002 May 109 (3): 202-5. Visapää Ilona, Fellman Vineta, Lanyi Lisa, Peltonen Lee |
Serum amino acids in patients with mutations in the hepatocyte nuclear factor-1 alpha gene. Diabetic medicine : a journal of the British Diabetic Association 2004 Aug 21 (8): 928-30. Stride A, Pearson E R, Brown A, Gooding K, Castleden H A J, Hattersley A |
The population-specific distribution and frequencies of genomic variants in the SLC3A1 and SLC7A9 genes and their application in molecular genetic testing of cystinuria. Urological research 2004 May 32 (2): 75-8. Schmidt C, Vester U, Hesse A, Lahme S, Lang F, Zerres K, Eggermann T |
New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype. Journal of medical genetics 2005 Jan 42 (1): 58-68. Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, Palacín M, Nunes |
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