JIMD Reports, Volume 25 /
| Autor Corporativo: | |
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| Otros Autores: | , , , , , |
| Formato: | eBook |
| Lenguaje: | English |
| Publicado: |
Berlin, Heidelberg :
Springer Berlin Heidelberg : Imprint: Springer,
2016.
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| Edición: | 1st ed. 2016. |
| Colección: | JIMD Reports,
25 |
| Materias: |
Tabla de Contenidos:
- 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.