Titlebook: JIMD Reports - Case and Research Reports, 2012/3; SSIEM Book 2012 SSIEM and Springer-Verlag Berlin Heidelberg 2012 endocrinology.inherited

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,Problems of Adults with a Mitochondrial Disease – The Patients’ Perspective: Focus on Loss,l participation”, “loss of personal identity”, “loss of dreams and future” as well as “lack of health care” and “coping and adjustment”...: In this first study on this theme, we developed a theory about patient’s losses related to mitochondrial disease. They experience a variety of problems in the p

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The Proline/Citrulline Ratio as a Biomarker for OAT Deficiency in Early Infancy,atabase of >450,000 newborns tested in Minnesota since 2004. Proline concentrations (777 and 1,381 μmol/L) were above the 99 percentile (776 μmol/L) of the general population, and citrulline concentrations (4.5 and 4.9 μmol/L) only just above the 1 percentile (4.37 μmol/L). The proline/citrulline ra

critique

Methionine Adenosyltransferase I/III Deficiency in Portugal: High Frequency of a Dominantly Inherit and genetic characteristics of individuals from these 11 families are presented. Plasma methionine and homocysteine concentrations were found to be moderately increased in all newborns, and molecular analysis revealed that they all were heterozygous for R264H mutation. Normal growth, development, a

Inflated

Lethal Undiagnosed Very Long-Chain Acyl-CoA Dehydrogenase Deficiency with Mild C14-Acylcarnitine Abdisease range, newborn screening for VLCAD deficiency was in the end considered normal. The most important lesson learned is that acylcarnitine profiles from healthy newborns during catabolism and VLCAD-deficient patients can in certain cases not be distinguished by any means. With a known high inci

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Newborn Screening for Lysosomal Storage Disorders in Hungary,. Genetic confirmation was carried out for 120 samples with abnormal screening results after retesting, which identified three cases of GD, three cases of FD, nine cases of PD, and two cases with NPB. In some cases, we detected up to now unknown mutations – one in NPB and seven in PD – which raise q

Acumen

方舟

Monique Fontaine,Anne-Frédérique Dessein,Claire Douillard,Dries Dobbelaere,Michèle Brivet,Audrey Bousultants, test personnel, field tech- cians and service staff would have to deal with the underlying architecture, c- cepts and detailed procedures. Yet, I noticed in my roughly two decades of 978-3-7091-1715-6978-3-211-09440-2

indigenous

ader with a fast and easy start. The concept and structure of the material compiled is p- sented, followed by some hints on how to make best use of it. Finally the status of standardization, on which this book is based, is described. 1. 1 Motivation Probably the main motivation for starting to draft

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