Blick ins Buch

JIMD Reports, Volume 25

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

Buch | Softcover

VI, 106 Seiten

2016 | 1st ed. 2016
Springer Berlin (Verlag)
978-3-662-49667-1 (ISBN)

Lese- und Medienproben

Blick ins Buch (midvox)

Artikel merken

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.

Coenzyme Q10 and Pyridoxal Phosphate Deficiency Is a Common Feature in Mucopolysaccharidosis Type III.- Pitfalls in Diagnosing Neuraminidase Deficiency: Psychosomatics and Normal Sialic Acid Excretion.- New Cases of DHTKD1 Mutations in Patients with 2-Ketoadipic Aciduria.- Screening Mucopolysaccharidosis Type IX in Patients with Juvenile Idiopathic Arthritis.- The Pathobiochemistry of Gastrointestinal Symptoms in a Patient with Niemann-Pick Type C Disease.- Improvement of Diffusion Tensor Imaging (DTI) Parameters with Decoppering Treatment in Wilson's Disease.- Vitamin E Improves Clinical Outcome of Patients Affected by Glycogen Storage Disease Type Ib.- Urine Beta2-Microglobulin Is an Early Marker of Renal Involvement in LPI.- The Spectrum of Krabbe Disease in Greece: Biochemical and Molecular Findings.- Exercise Intolerance and Myoglobinuria Associated with a Novel Maternally Inherited MT-ND1 Mutation.- PNPO Deficiency and Cirrhosis: Expanding the Clinical Phenotype?.- Liver Fibrosis Associated with Iron Accumulation Due to Long-Term Heme-Arginate Treatment in Acute Intermittent Porphyria: A Case Series.- GM2-Gangliosidosis, AB Variant: Clinical, Ophthalmological, MRI, and Molecular Findings.- LC-MS/MS Analysis of Cerebrospinal Fluid Metabolites in the Pterin Biosynthetic Pathway.- Reduction of plasma globotriaosylsphingosine levels after switching from agalsidase alfa to agalsidase beta as enzyme replacement therapy for Fabry disease.

Erscheinungsdatum	08.10.2016
Reihe/Serie	JIMD Reports
Zusatzinfo	VI, 106 p.
Verlagsort	Berlin
Sprache	englisch
Maße	210 x 279 mm
Themenwelt	Medizin / Pharmazie ► Medizinische Fachgebiete
Themenwelt	Studium ► 2. Studienabschnitt (Klinik) ► Humangenetik
Schlagworte	endocrinology • Human genetics • inherited metabolic diseases • medical genetics • Medicine • Mendelian disorder • Metabolic disease • metabolic diseases • Molecular Medicine • Pediatrics
ISBN-10	3-662-49667-4 / 3662496674
ISBN-13	978-3-662-49667-1 / 9783662496671
Zustand	Neuware