Titlebook: JIMD Reports, Volume 25; Eva Morava,Matthias Baumgartner,Verena Peters Book 2016 SSIEM and Springer-Verlag Berlin Heidelberg 2016 inherite

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Reduction of Plasma Globotriaosylsphingosine Levels After Switching from Agalsidase Alfa to Agalsid 0.2?mg/kg and 1.0?mg/kg every other week (EOW), respectively...: This open-label, multicenter, exploratory phase 4 study evaluated plasma globotriaosylsphingosine (lyso-GL-3) and plasma and urine globotriaosylceramide (GL-3) levels at baseline and 2, 4, and 6 months after the switch from agalsidase

BALE

Book 2016JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

ICLE

https://doi.org/10.1007/978-3-662-49668-8inherited metabolic diseases; pediatrics; medical genetics; Mendelian disorder; endocrinology; metabolic

enfeeble

978-3-662-49667-1SSIEM and Springer-Verlag Berlin Heidelberg 2016

直覺(jué)好

JIMD Reports, Volume 25978-3-662-49668-8Series ISSN 2192-8304 Series E-ISSN 2192-8312

fleeting

Eva Morava,Matthias Baumgartner,Verena PetersUnique collection of case and research reports on rare metabolic disorders.Contains unusual or previously unrecorded features relevant to metabolic disorders.All contributions rigorously peer-reviewed

Instrumental

遠(yuǎn)地點(diǎn)

2192-8304 disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.978-3-662-49667-1978-3-662-49668-8Series ISSN 2192-8304 Series E-ISSN 2192-8312

Factual

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The Pathobiochemistry of Gastrointestinal Symptoms in a Patient with Niemann-Pick Type C Disease,ata explain reduced carbohydrate digestion in the intestinal lumen and delineate the effect of deficient cholesterol and sphingolipid homeostasis in development of gastrointestinal symptoms in NPC patients.