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.
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.
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.
Es gelten unsere Allgemeinen Geschäftsbedingungen: www.buecher.de/agb
Impressum
www.buecher.de ist ein Internetauftritt der buecher.de internetstores GmbH
Geschäftsführung: Monica Sawhney | Roland Kölbl | Günter Hilger
Sitz der Gesellschaft: Batheyer Straße 115 - 117, 58099 Hagen
Postanschrift: Bürgermeister-Wegele-Str. 12, 86167 Augsburg
Amtsgericht Hagen HRB 13257
Steuernummer: 321/5800/1497
USt-IdNr: DE450055826
