Results 1 -
10
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27
for
metabolic disorders
- ... KM, Hasholt L, Sorensen SA. Fabry disease--a metabolic disorder with a challenge for endocrinologists? Horm Res. 2002; ...
- ... Hepatic cirrhosis, dystonia, polycythaemia and hypermanganesaemia--a new metabolic disorder. J Inherit Metab Dis. 2008 Apr;31(2): ...
- ... Suomalainen A, Peltonen L. GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point ...
- ... Fabre EE, Nivet-Antoine V. Catalase polymorphisms and metabolic diseases. Curr Opin Clin Nutr Metab Care. 2012 Jul; ...
- ... deficiency: "if you have to have an inherited metabolic disease, this is the one to have". Genet Med. ...
- ... people with renal tubular acidosis with deafness, a disorder involving excess acid in the blood (metabolic acidosis), bone weakness, and hearing loss caused by ...
- ... people with renal tubular acidosis with deafness, a disorder involving excess acid in the blood (metabolic acidosis), bone weakness, and hearing loss caused by ...
- ... associated distal renal tubular acidosis, a kidney (renal) disorder that leads to the buildup of acid in the blood (metabolic acidosis). Some people with this condition also have ...
- The ATP6V0A2 gene provides instructions for making one part, the a2 subunit, of a large protein complex (a group of proteins that work together). This protein ...
- ... Proliferation and Connectivity in PTEN-associated Autism Spectrum Disorder. ... and metabolic syndromes: PTEN-opathies and precision medicine. Endocr Relat ...