JIMD Reports, Volume 27 (eBook)

Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters (Herausgeber)

eBook Download: PDF

2016 | 1st ed. 2016
VI, 112 Seiten
Springer Berlin (Verlag)
978-3-662-50409-3 (ISBN)

Infos

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.

Inhalt

Detailed
Biochemical and Bioenergetic Characterization of FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion.- Recurrent
Ventricular Tachycardia in Medium-Chain Acyl-Coenzyme A Dehydrogenase
Deficiency.- Application
of an Image Cytometry Protocol for Cellular and Mitochondrial Phenotyping on Fibroblasts
from Patients with Inherited Disorders.- SUCLA2<
Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings
(Report of a New Patient and Review of the Literature).- Diagnostic
Value of Urinary Mevalonic Acid Excretion in Patients with a Clinical Suspicion
of Mevalonate Kinase Deficiency (MKD).- Hyperprolinemia
in Type 2 Glutaric Aciduria and MADD-Like Profiles.- IgG
N-Glycosylation Galactose
Incorporation Ratios for the Monitoring of Classical Galactosaemia.- Intracranial
Pressure Monitoring Demonstrates that Cerebral Edema Is Not Correlated to Hyperammonemia
in a Child with Ornithine Transcarbamylase Deficiency.- No
Evidence for Association of SCO2
Heterozygosity with High-Grade Myopia or Other Diseases with Possible
Mitochondrial Dysfunction.- Voluntary
Exercise Prevents Oxidative Stress in the Brain of Phenylketonuria Mice.- Seizures
Due to a KCNQ2 Mutation: Treatment
with Vitamin B6.- The
Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic
Centres: Report from the SSIEM Adult Metabolic Physicians Group.- Electroclinical
Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation
(CDGs).- The
Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency.- Further
Delineation of the ALG9-CDG Phenotype.

Produkt-Details

• Erscheint lt. Verlag: 5.5.2016
• Reihe/Serie: JIMD Reports
• Reihe/Serie: JIMD Reports
• Zusatzinfo: VI, 112 p. 28 illus., 14 illus. in color.
• Verlagsort: Berlin
• Sprache: englisch
• Themenwelt: Medizin / Pharmazie ► Medizinische Fachgebiete ► Innere Medizin
• Themenwelt: Medizin / Pharmazie ► Medizinische Fachgebiete ► Pädiatrie
• Themenwelt: Naturwissenschaften ► Biologie
• Themenwelt: Technik
• Schlagworte: endocrinology • inherited metabolic diseases • medical genetics • Mendelian disorder • Metabolic disease • Pediatrics
• ISBN-10: 3-662-50409-X / 366250409X
• ISBN-13: 978-3-662-50409-3 / 9783662504093