Catalogue


JIMD Reports, Volume 25 [electronic resource] /
edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters.
edition
1st ed. 2016.
imprint
Berlin, Heidelberg : Springer Berlin Heidelberg : Imprint: Springer, 2016.
description
VI, 106 p. online resource.
ISBN
9783662496671 (print), 9783662496688
format(s)
Book
More Details
series title
series title
imprint
Berlin, Heidelberg : Springer Berlin Heidelberg : Imprint: Springer, 2016.
isbn
9783662496671 (print)
9783662496688
standard identifier
10.1007/978-3-662-49668-8
restrictions
Licensed for access by U. of T. users.
contents note
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.
abstract
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.
catalogue key
10441851

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