TY  - BOOK
AU  - Morava,Eva
AU  - Baumgartner,Matthias
AU  - Patterson,Marc
AU  - Rahman,Shamima
AU  - Zschocke,Johannes
AU  - Peters,Verena
ED  - SpringerLink (Online service)
TI  - JIMD Reports, Volume 28
T2  - JIMD Reports,
SN  - 9783662528471
AV  - RB155-155.8 
U1  - 611.01816 23
PY  - 2016///
CY  - Berlin, Heidelberg
PB  - Springer Berlin Heidelberg, Imprint: Springer
KW  - Medicine
KW  - Human genetics
KW  - Molecular biology
KW  - Metabolic diseases
KW  - Pediatrics
KW  - Biomedicine
KW  - Human Genetics
KW  - Metabolic Diseases
KW  - Molecular Medicine
N1  - Lethal Neonatal Progression of Fetal Cardiomegaly Associated to ACAD9 Deficiency -- Novel Direct Assay for Acetyl-CoA:?-Glucosaminide N-Acetyltransferase Using BODIPY-Glucosamine as a Substrate -- Electrical Changes in Resting, Exercise, and Holter Electrocardiography in Fabry Cardiomyopathy -- The Nutritional Intake of Patients with Organic Acidaemias on Enteral Tube Feeding: Can We Do Better? -- Normoglycemic Ketonemia as Biochemical Presentation in Ketotic Glycogen Storage Disease -- LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure -- Lower Urinary Tract Symptoms and Incontinence in Children with Pompe Disease -- Cerebral Lipid Accumulation Detected by MRS in a Child with Carnitine Palmitoyltransferase 2 Deficiency: A Case Report and Review of the Literature on Genetic Etiologies of Lipid Peaks on MRS -- Neuropsychological Development in Patients with Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency -- Enhancement by Uridine Diphosphate of Macrophage Inflammatory Protein-1 Alpha Production in Microglia Derived from Sandhoff Disease Model Mice -- In Patients with an ?-Galactosidase A Variant, Small Nerve Fibre Assessment Cannot Confirm a Diagnosis of Fabry Disease -- In Utero Diagnosis of Niemann?Pick Type C in the Absence of Family History -- Multiple, Successful Pregnancies in Pompe Disease -- Heterologous Expression in Yeast of Human Ornithine Carriers ORNT1 and ORNT2 and of ORNT1 Alleles Implicated in HHH Syndrome in Humans -- Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011?2014)
N2  - JIMD 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
UR  - http://148.231.10.114:2048/login?url=http://dx.doi.org/10.1007/978-3-662-52847-1
ER  -