Titlebook: JIMD Reports, Volume 45; Eva Morava,Matthias Baumgartner,Verena Peters Book 2019 Society for the Study of Inborn Errors of Metabolism (SSI

学术讨论会

Harbor

项目

Glycogen Storage Disease Type IV: A Rare Cause for Neuromuscular Disorders or Often Missed?,an autosomal recessive metabolic disorder with a broad and expanding clinical spectrum, which hampers targeted diagnostics. The current cases illustrate the value of novel genetic testing for rare genetic disorders with neuromuscular phenotypes, especially in case of clinical heterogeneity. We argue

具体

A Hemizygous Deletion Within the , Gene in Males with PGK1 Deficiency,diagnosis of PGK1 deficiency was established by molecular analysis which detected an approximately 886 kb deletion involving the polyadenylation site in the 3′UTR of the . gene. RNA analysis showed significantly reduced . transcript levels (30% compared to normal). This is the first deletion reporte

PHON

Decimate

Rachel Edmiston,Stuart Wilkinson,Simon Jones,Karen Tylee,Alexander Broomfield,Iain A. Brucer environmental conditions may also perturb or change over time. For these dynamic and uncertain optimization problems, the o978-3-642-08065-4978-3-540-49774-5Series ISSN 1860-949X Series E-ISSN 1860-9503

致敬

Heng Wang,Valerie Sency,Paul McJarrow,Alicia Bright,Qianyang Huang,Karen Cechner,Julia Szekely,JoAnnr environmental conditions may also perturb or change over time. For these dynamic and uncertain optimization problems, the o978-3-642-08065-4978-3-540-49774-5Series ISSN 1860-949X Series E-ISSN 1860-9503

arousal

Chenia Caldeira Martinez,Tássia Tonon,Tatiéle Nalin,Lilia Farret Refosco,Carolina Fischinger Moura dr environmental conditions may also perturb or change over time. For these dynamic and uncertain optimization problems, the o978-3-642-08065-4978-3-540-49774-5Series ISSN 1860-949X Series E-ISSN 1860-9503

安装

Naresh P. Shanmugam,Joseph J. Valamparampil,Mettu Srinivas Reddy,Khoula Julenda Al Said,Khalid Al-Thr environmental conditions may also perturb or change over time. For these dynamic and uncertain optimization problems, the o978-3-642-08065-4978-3-540-49774-5Series ISSN 1860-949X Series E-ISSN 1860-9503

follicular-unit

Thomas M. Kitzler,Indra R. Gupta,Bradley Osterman,Chantal Poulin,Yannis Trakadis,Paula J. Waters,Dand derivative pricing, are new and interesting for different target groups. The book also includes informations on web sites, conferences, and computer software.978-3-7908-2512-1978-3-7908-1784-3Series ISSN 1434-9922 Series E-ISSN 1860-0808