BookEva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahma, Johannes Zschocke, Verena Peters, editors.
Summary: 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.
Contents:
Intro; Contents; Normal Growth in PKU Patients Under Low-Protein Diet in a Single-Center Cross-Sectional Study; Abstract; Introduction; Material and Methods; Patient Cohort; Control Population; Anthropometry; Dietary Intake; Statistical Analysis; Results; Study Cohort and Control Population; Anthropometry Findings; Statistical Analysis; Discussion; Take-Home Message; Compliance with Ethics Guidelines; References; Serial Magnetic Resonance Imaging and 1H-Magnetic Resonance Spectroscopy in GABA Transaminase Deficiency: A Case Report; Abstract; Introduction; Case Report; Radiological Findings BiochemistryResults; Mutation Analysis; mtDNA Haplotype Analysis; Enzyme Diagnostics; Discussion; Synopsis; Compliance with Ethics Guidelines; Ethics Approval; Conflict of Interest; Funding; Authors ́Contributions; References; Pentosan Polysulfate Treatment of Mucopolysaccharidosis Type IIIA Mice; Abstract; Introduction; Materials and Methods; Experimental Animals; PPS Administration; Plasma Immunoassays; Histology and Immunohistochemistry; Neurobehavioral Evaluations; Statistics; Results; Effects of PPS Treatment on Systemic Pathology and Inflammation in MPS IIIA Mice Cognitive and Behavioural Outcomes of Paediatric Liver Transplantation for Ornithine Transcarbamylase DeficiencyAbstract; Introduction; Methods; Participants; Measures; Memory; Results; Patients; Cognitive Outcomes; Discussion; Conclusion; Take-Home Message; Contributions of the Authors; Competing Interests; Funding; Ethics; References; Muscle Weakness, Cardiomyopathy, and L-2-Hydroxyglutaric Aciduria Associated with a Novel Recessive SLC25A4 Mutation; Abstract; Introduction; Case History; Material and Methods; Autozygosity Mapping and Whole Exome Sequencing; MtDNA Deletion Screening Effects of PPS Treatment on Neuropathological Markers in MPS IIIA MiceEffects of PPS Treatment on Behavioral Testing in the MPS IIIA Mice; Discussion; Synopsis of Article; Conflict of Interest; Animal Rights; Contributions of Individual Authors; References#x84;; Serum Amino Acid Profiling in Citrin-Deficient Children Exhibiting Normal Liver Function During the Apparently Healthy Period; Abstract; Introduction; Subjects and Methods; Subjects and Sample Collection; Serum Amino Acid Analyses; Statistical Analyses; Results; Anthropometric and Basal Biochemical Data GABA in the Serum and Cerebrospinal FluidElectroencephalography (EEG); Discussion; Authors ́Contributions; Corresponding Author; Conflict of Interest; Funding; Compliance with Ethics Guideline; Informed Consent; References; Metabolomics Profile in ABAT Deficiency Pre- and Post-treatment; Abstract; Introduction; Methods; Human Subjects; Metabolomic Profiling; Results; Clinical Description; Metabolic Testing; Metabolomic Profiling; Discussion; Author Contributions; Conflict of Interest; References