Titlebook: JIMD Reports, Volume 40; Eva Morava,Matthias Baumgartner,Verena Peters Book 2018 Society for the Study of Inborn Errors of Metabolism (SSI

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书目名称JIMD Reports, Volume 40影响因子(影响力)学科排名




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书目名称JIMD Reports, Volume 40网络公开度学科排名




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书目名称JIMD Reports, Volume 40被引频次学科排名




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书目名称JIMD Reports, Volume 40年度引用学科排名




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书目名称JIMD Reports, Volume 40读者反馈学科排名

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Nitisinone-Induced Keratopathy in Alkaptonuria: A Challenging Diagnosis Despite Clinical Suspicion,haracterised by elevated levels of homogentisic acid. Nitisinone (NTBC) is a benzoylcyclohexane-1,3-dione that reversibly inhibits the activity of the enzymatic step immediately prior to homogentisate dioxygenase, hence reducing the production of homogentisic acid. Thus it is thought that nitisinone

Detain

ALG13-CDG with Infantile Spasms in a Male Patient Due to a De Novo , Gene Mutation, symptoms were delayed visual development, asymmetrical hearing loss, hypotonia, and choreoathetoid movements. He also had some dysmorphic features and was vulnerable for infections. He was treated successively with vigabatrin, prednisolone, valproic acid, nitrazepam, and lamotrigine without a lasti

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Liver Failure as the Presentation of Ornithine Transcarbamylase Deficiency in a 13-Month-Old Femaleon testing is often abnormal in patients with OTCD, liver failure is uncommon on presentation. A 13-month-old female with no significant past medical history presented with irritability, right arm weakness, and decreased appetite. Initial workup revealed hepatic dysfunction with an INR of 3.4, ammon

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VERT

,Hyperphenylalaninaemias in Estonia: Genotype–Phenotype Correlation and Comparative Overview of the nts clearly cluster into two distinct groups: the patients with late diagnosis and start of therapy (. = 46), who were born before 1993 when the national newborn screening programme was launched, and the screened babies (. = 48) getting their diagnoses at least in a couple of weeks after birth..Alto

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Novel Missense LCAT Gene Mutation Associated with an Atypical Phenotype of Familial LCAT Deficiencytions in the human LCAT gene, leading to alterations in the lipid/lipoprotein profile, with extremely low HDL levels..The classical FLD phenotype is characterized by diffuse corneal opacification, haemolytic anaemia and proteinuric chronic kidney disease (CKD); an incomplete form, only affecting the

课程

Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency: Unique Presenting Laboratory Valute was normal. Serum triglycerides were markedly elevated and HDL cholesterol was very low. The urine organic acid analysis during the acute episode revealed a complex pattern of relative hypoketotic dicarboxylic aciduria, suggestive of a potential fatty acid oxidation disorder. MRI showed extensive