أخف |
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حمض أميني | عضرية ( Phenylketonuria, Alkaptonuria, Ochronosis, Tyrosinemia, Albinism, Histidinemia) - Organic acidemias ( Maple syrup urine disease, Propionic acidemia, Methylmalonic acidemia, Isovaleric acidemia, 3-Methylcrotonyl-CoA carboxylase deficiency) - Transport ( Cystinuria, Cystinosis, Hartnup disease, Fanconi syndrome, Oculocerebrorenal syndrome, Lysinuric protein intolerance) - Sulfur ( Homocystinuria, Cystathioninuria, Hawkinsinuria) - Urea cycle disorder ( N-Acetylglutamate synthase deficiency, Carbamoyl phosphate synthetase I deficiency, Ornithine transcarbamylase deficiency, Citrullinemia, Argininosuccinic aciduria, Argininemia, Hyperammonemia) - Glutaric acidemia type 1 - Hyperprolinemia - Sarcosinemia - Other Trimethylaminuria - Tetrahydrobiopterin deficiency |
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كربوهيدرات | Lactose intolerance - Glycogen storage disease ( type I, type II, type III, type IV, type V, type VI, type VII) - fructose metabolism ( Fructose intolerance, Fructose bisphosphatase deficiency, Essential fructosuria) - galactose metabolism ( Galactosemia, Galactose-1-phosphate uridylyltransferase galactosemia, Galactokinase deficiency) - other intestinal carbohydrate absorption ( Glucose-galactose malabsorption, Sucrose intolerance) - pyruvate metabolism and gluconeogenesis ( PCD, PDHA) -
Pentosuria - Renal glycosuria |
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تخزين الدهون | |
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أيض الأحماض الدهنية | |
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الأملاح | |
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Fluid, electrolyte وacid-base balance | |
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Purine and pyrimidine | |
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Porphyrin | |
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Bilirubin | |
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گليكوسامينوگليكان Glycosaminoglycan | |
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گليكوپروتين | |
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غيرهم | |
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