Titlebook: JIMD Reports - Case and Research Reports, Volume 13; Johannes Zschocke,K. Michael Gibson,Verena Peters Book 2014 SSIEM and Springer-Verlag

樹(shù)木中

Pregnancy and Lactation Outcomes in a Turkish Patient with Lysinuric Protein Intolerance,bleeding complications during delivery. There has been limited number of reports about pregnancy and outcomes of lactation in LPI. Here we present pregnancy and lactation outcomes in a Turkish patient with LPI. In the pregnancy and delivery period, her metabolic status was stable with protein-restri

詢問(wèn)

Hyperalgesia

Multiple Acyl-CoA Dehydrogenation Deficiency (Glutaric Aciduria Type II) with a Novel Mutation of Eof the mitochondrial fatty-acid oxidation disorders. MADD is caused by a defect in the electron transfer flavoprotein (ETF) or ETF dehydrogenase (ETFDH) molecule, but as yet, inherited MADD has not been reported in animals. Here we present the first report of MADD in a cat. The affected animal prese

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上流社會(huì)

Severe Hypertriglyceridemia in a Newborn with Monogenic Lipoprotein Lipase Deficiency: An Unconvent pancreatitis. A 23-day-old male with sHTG was admitted to the Neonatal Intensive Care Unit for plasmapheresis being at high risk for acute pancreatitis. Given the potential hazard of an extracorporeal technique in a very young infant, we decided to perform an exchange transfusion (ET), a procedure

懶洋洋

Absenteeism

,Distribution and Severity of Neuropathology in β-Mannosidase-Deficient Mice is Strain Dependent, glycoprotein catabolism caused by deficiency of the lysosomal enzyme β-mannosidase, is characterized by intracellular accumulation of small oligosaccharides in selected cell types. In ruminants, clinical manifestation is severe, and neuropathology includes extensive intracellular vacuolation and dy

返老還童

High Dietary Folic Acid and High Plasma Folate in Children and Adults with Phenylketonuria,nts of this vitamin. Concern has been raised about the safety of high levels of folic acid, especially in relation to cancer risk... This cross-sectional study included 34 children and 22 adults with PKU. A dietary interview was performed and intake of folic acid and vitamin B12 from protein substit

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