箴言 发表于 2025-3-23 12:44:06
http://reply.papertrans.cn/87/8617/861672/861672_11.pngadumbrate 发表于 2025-3-23 15:20:07
C. Hünseler Dr. med.,B. Roth Dr. med.,E. Michel PD Dr. med.,G. Dubbel,B. Zernikow PD Dr. med.the pancreas are involved, and a focal form, where hypersecreting β-cells are restricted to a small region of the pancreas.Focal forms can also be immediately and definitively cured by partial pancreatectomy, whereas alternative strategies for diffuse forms include subtotal pancreatectomy (leading tfloaters 发表于 2025-3-23 19:12:03
A. Reich Dr. med., DEAArogenase (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 deletCapture 发表于 2025-3-23 23:34:19
t treatment. Infants who remain undiagnosed develop symptoms and signs of liver and kidney failure and succumb to sepsis. Survivors develop cataracts and mental impairment. Diagnosis is suggested by the presence of reducing substance in the urine of the fed newborn, and it is made by enzyme assay onenchant 发表于 2025-3-24 05:35:51
H. Labouvie Dipl.-Psych.,M. Kusch PD Dr. phil., Dipl.Psych.,T. Hechler Dr. rer. nat., Dipl.-Psych.are important parameters in screening for inborn errors of metabolism: lactate and pyruvate, ketone bodies, total and free carnitine..In most cases abnormal metabolites are continuously present in urine and/or blood. In few instances, however, the presence of metabolites is strongly determined by thBrittle 发表于 2025-3-24 07:00:58
T. Hechler Dr.rer.nat., Dipl.-Psych.,M. Dobe Dipl.-Psych.,U. Damschen Dipl.-Psych.,H. Denecke Dr.rerce, at least subjectively..In glycolysis defects in muscles, similar muscular symptoms appear and the serum creatine kinase level increases. Myogenic hyperuricemia may occur. No beneficial effect of glucagon treatment has been reported..Mypopathy associated with increased hemolysis occurs in muscleCcu106 发表于 2025-3-24 11:42:57
henylalanine to tyrosine. The defect causes accumulation of phenylalanine and its metabolites, e. g., phenylpyruvate, leading to phenylketonuria and phenylacetate responsible for a “musty” odor in untreated patients. Different mutations in the gene coding for phenylalanine hydroxylase correlate withHallmark 发表于 2025-3-24 17:24:08
W. Henkel MScN,J. Behlert,C. Geiss Dipl.-Geographin,S. Herzog MScN,D. Märkert,A. Menke,S. Möllmann,Dce, at least subjectively..In glycolysis defects in muscles, similar muscular symptoms appear and the serum creatine kinase level increases. Myogenic hyperuricemia may occur. No beneficial effect of glucagon treatment has been reported..Mypopathy associated with increased hemolysis occurs in muscle比目鱼 发表于 2025-3-24 19:00:07
http://reply.papertrans.cn/87/8617/861672/861672_19.png打算 发表于 2025-3-25 00:01:06
http://reply.papertrans.cn/87/8617/861672/861672_20.png