Titlebook: Inborn Metabolic Diseases; Diagnosis and Treatm Jean-Marie Saudubray,Matthias R. Baumgartner,John Book 20166th edition Springer-Verlag Gmb

摘要

Disorders of Glycolysis and the Pentose Phosphate Pathwayrogenase (LDH) deficiencies present with a purely myopathic syndrome characterized by exercise induced cramps and myoglobinuria. Glycerol kinase deficiency (GKD) is an X-linked disorder that is either an isolated condition presenting with hypoglycaemia and acidosis or part of a contiguous gene delet

终点

Audiometry

Disorders of Glucose Transportose and galactose carrier of hepatic, renal and pancreatic β-cells. Patients typically present with a combination of increased hepatic glycogen storage and generalised renal tubular dysfunction which includes severe glucosuria. Finally, . is an entity characterised by hyperelastic connective tissue

fertilizer

庄严

Disorders of Ketogenesis and Ketolysisor the monocarboxylate transporter 1 (MCT1) present with episodes of ketoacidosis. This is often accompanied by dehydration and decreased consciousness. The organic acids usually show characteristic abnormalities in T2 deficiency but there are no specific findings in SCOT or MCT1 deficiencies and di

Infinitesimal

Disorders of Oxidative Phosphorylationsubunits and assembly factors, and disorders of mitochondrial DNA maintenance, protein synthesis, cofactor biosynthesis and lipid metabolism. The complexity of underlying disease mechanisms, together with clinical, biochemical and genetic heterogeneity, creates enormous diagnostic challenges. Most m

immunity

airborne

Gerard T. Berry,John Walter,Judith L. Fridovich-Keil

braggadocio

Mirjam M.C. Wamelink,Vassili Valayannopoulos,Barbara Garavaglia

Absenteeism

Linda de Meirleir,Angels Garcia-Cazorla,Michèle Brivet