The Inherited Metabolic DiseasesJohn B. Holton |
Contents
Introduction | 1 |
Disorders of carbohydrate metabolism | 18 |
Lysosomal storage disorders | 59 |
Copyright | |
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Common terms and phrases
abnormal accumulation aciduria activity acute affected amino acid amounts anaemia analysis appears associated autosomal recessive biochemical blood cause changes cholesterol chromatography clinical collagen common complex concentrations condition containing copper cultured defect deficiency dehydrogenase demonstrated described diagnosis disease disorders early enzyme evidence excess excretion failure fibroblasts fluid formation fructose function galactose gene genetic give glucose glycogen haem haemolytic hepatic heterozygotes important increased inherited involved iron Journal known later lead less levels liver lysosomal major McKusick measurement metabolism metabolites molecule neonatal neurological normal occur organic particularly pathway patients plasma porphyria possible prenatal diagnosis present primary probably produced protein purine rare red cells reduced renal reported residual seen severe shown similar skin specific steroid storage structure studies suggests symptoms syndrome synthesis Table therapy tissues transport treatment Type urinary urine usually variant