Titlebook: JIMD Reports, Volume 28; Eva Morava,Matthias Baumgartner,Verena Peters Book 2016 SSIEM and Springer-Verlag Berlin Heidelberg 2016 inherite

angiography

https://doi.org/10.1007/978-3-662-52847-1inherited metabolic diseases; pediatrics; medical genetics; Mendelian disorder; endocrinology; metabolic

Anguish

978-3-662-52846-4SSIEM and Springer-Verlag Berlin Heidelberg 2016

大包裹

JIMD Reports, Volume 28978-3-662-52847-1Series ISSN 2192-8304 Series E-ISSN 2192-8312

certitude

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

Radiculopathy

2否定

Cerebral Lipid Accumulation Detected by MRS in a Child with Carnitine Palmitoyltransferase 2 Defici0.9?ppm, originating from the distal methyl group. We review the literature on the different genetic conditions that have been found to show lipid peaks on brain spectroscopy and report the first patient with carnitine palmitoyltransferase 2 deficiency shown to have such lipid peaks, thus indicating brain fat accumulation.

罐里有戒指

Multiple, Successful Pregnancies in Pompe Disease,scribe a twin pregnancy followed by a second pregnancy in a 38-year-old female patient with Pompe disease. We report the impact of pregnancy on muscle and respiratory functions as well as the neurological and endocrine systems and discuss the medical consequences for anaesthetic management at parturition.

MEAN

parasite

Eulogy