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JIMD Reports, Volume 27

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

Buch | Softcover

VI, 112 Seiten

2016 | 1st ed. 2016
Springer Berlin (Verlag)
978-3-662-50408-6 (ISBN)

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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.

DetailedBiochemical and Bioenergetic Characterization of FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion.- RecurrentVentricular Tachycardia in Medium-Chain Acyl-Coenzyme A DehydrogenaseDeficiency.- Applicationof an Image Cytometry Protocol for Cellular and Mitochondrial Phenotyping on Fibroblastsfrom Patients with Inherited Disorders.- SUCLA2N-Glycosylation GalactoseIncorporation Ratios for the Monitoring of Classical Galactosaemia.- IntracranialPressure Monitoring Demonstrates that Cerebral Edema Is Not Correlated to Hyperammonemiain a Child with Ornithine Transcarbamylase Deficiency.- NoEvidence for Association of SCO2Heterozygosity with High-Grade Myopia or Other Diseases with PossibleMitochondrial Dysfunction.- VoluntaryExercise Prevents Oxidative Stress in the Brain of Phenylketonuria Mice.- SeizuresDue to a KCNQ2 Mutation: Treatmentwith Vitamin B₆.- TheFrequencies of Different Inborn Errors of Metabolism in Adult MetabolicCentres: Report from the SSIEM Adult Metabolic Physicians Group.- ElectroclinicalFeatures of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation(CDGs).- TheNewborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency.- FurtherDelineation of the ALG9-CDG Phenotype.

Erscheinungsdatum	08.10.2016
Reihe/Serie	JIMD Reports
Zusatzinfo	VI, 112 p. 28 illus., 14 illus. in color.
Verlagsort	Berlin
Sprache	englisch
Maße	210 x 279 mm
Themenwelt	Medizin / Pharmazie ► Medizinische Fachgebiete ► Pädiatrie
	Studium ► 1. Studienabschnitt (Vorklinik) ► Biochemie / Molekularbiologie
	Studium ► 2. Studienabschnitt (Klinik) ► Humangenetik
Schlagworte	Biomedical and Life Sciences • endocrinology • Human genetics • inherited metabolic diseases • medical genetics • Mendelian disorder • Metabolic disease • metabolic diseases • Molecular Medicine • Pediatrics
ISBN-10	3-662-50408-1 / 3662504081
ISBN-13	978-3-662-50408-6 / 9783662504086
Zustand	Neuware