摘要
发表于 2025-3-23 13:05:45
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
发表于 2025-3-23 14:46:31
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Audiometry
发表于 2025-3-23 21:17:41
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
发表于 2025-3-24 00:16:09
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庄严
发表于 2025-3-24 03:33:10
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
发表于 2025-3-24 09:04:03
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
发表于 2025-3-24 12:15:45
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airborne
发表于 2025-3-24 17:36:12
Gerard T. Berry,John Walter,Judith L. Fridovich-Keil
braggadocio
发表于 2025-3-24 20:14:23
Mirjam M.C. Wamelink,Vassili Valayannopoulos,Barbara Garavaglia
Absenteeism
发表于 2025-3-25 00:53:29
Linda de Meirleir,Angels Garcia-Cazorla,Michèle Brivet