JIMD Reports, Volume 43

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

Buch | Softcover

VI, 124 Seiten

2019 | 1st ed. 2019
Springer Berlin (Verlag)
978-3-662-58613-6 (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.

Normal Growth in PKU Patients Under Low-Protein Diet in a Single-Center Cross-Sectional Study.- Serial Magnetic Resonance Imaging and 1H-Magnetic Resonance Spectroscopy in GABA Transaminase Deficiency: A Case Report.-Metabolomics Profile in ABAT Deficiency Pre- and Post-treatment.- Cognitive and Behavioural Outcomes of Paediatric Liver Transplantation for Ornithine Transcarbamylase Deficiency.- Muscle Weakness, Cardiomyopathy, and L-2-Hydroxyglutaric Aciduria Associated with a Novel Recessive SLC25A4 Mutation.- Pentosan Polysulfate Treatment of Mucopolysaccharidosis Type IIIA Mice.- Serum Amino Acid Profiling in Citrin-Deficient Children Exhibiting Normal Liver Function During the Apparently Healthy Period.- Severe Leukoencephalopathy with Clinical Recovery Caused by Recessive BOLA3 Mutations.- Neonatal Onset Interstitial Lung Disease as a Primary Presenting Manifestation of Mucopolysaccharidosis Type I.- A Middle Eastern Founder Mutation Expands the Genotypic and Phenotypic Spectrum of Mitochondrial MICU1 Deficiency: A Report of 13 Patients.- Disruption of the Responsible Gene in a Phosphoglucomutase 1 Deficiency Patient by Homozygous Chromosomal Inversion.- Evaluation of Disease Lesions in the Developing Canine MPS IIIA Brain.- Extrapolation of Variant Phase in Mitochondrial Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency.- RFT1-CDG: Absence of Epilepsy and Deafness in Two Patients with Novel Pathogenic Variants.- Short-Term Administration of Mycophenolate Is Well-Tolerated in CLN3 Disease (Juvenile Neuronal Ceroid Lipofuscinosis).

Erscheinungsdatum	23.01.2019
Reihe/Serie	JIMD Reports
Zusatzinfo	VI, 124 p. 35 illus., 20 illus. in color.
Verlagsort	Berlin
Sprache	englisch
Maße	210 x 279 mm
Gewicht	363 g
Themenwelt	Medizin / Pharmazie ► Medizinische Fachgebiete
Themenwelt	Studium ► 2. Studienabschnitt (Klinik) ► Humangenetik
Schlagworte	endocrinology • inherited metabolic diseases • medical genetics • Mendelian disorder • Metabolic disease • Pediatrics
ISBN-10	3-662-58613-4 / 3662586134
ISBN-13	978-3-662-58613-6 / 9783662586136
Zustand	Neuware