|
|
|
|
| LEADER |
02876nam a22004095i 4500 |
| 001 |
000284598 |
| 005 |
20210817175852.0 |
| 007 |
cr nn 008mamaa |
| 008 |
160401s2016 gw | s |||| 0|eng d |
| 020 |
|
|
|a 9783662496688
|
| 024 |
7 |
|
|a 10.1007/978-3-662-49668-8
|2 doi
|
| 040 |
|
|
|a Sistema de Bibliotecas del Tecnológico de Costa Rica
|
| 245 |
1 |
0 |
|a JIMD Reports, Volume 25 /
|c edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters.
|
| 250 |
|
|
|a 1st ed. 2016.
|
| 260 |
# |
# |
|a Berlin, Heidelberg :
|b Springer Berlin Heidelberg :
|b Imprint: Springer,
|c 2016.
|
| 300 |
|
|
|a VI, 106 p. :
|b online resource.
|
| 336 |
|
|
|a text
|b txt
|2 rdacontent
|
| 337 |
|
|
|a computer
|b c
|2 rdamedia
|
| 338 |
|
|
|a online resource
|b cr
|2 rdacarrier
|
| 490 |
1 |
|
|a JIMD Reports,
|v 25
|
| 505 |
0 |
|
|a 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.
|
| 650 |
|
0 |
|a Human genetics.
|
| 650 |
|
0 |
|a Metabolic diseases.
|
| 650 |
|
0 |
|a Pediatrics.
|
| 650 |
|
0 |
|a Molecular biology.
|
| 650 |
1 |
4 |
|a Human Genetics.
|
| 650 |
2 |
4 |
|a Metabolic Diseases.
|
| 650 |
2 |
4 |
|a Pediatrics.
|
| 650 |
2 |
4 |
|a Molecular Medicine.
|
| 700 |
1 |
|
|a Morava, Eva.
|e editor.
|
| 700 |
1 |
|
|a Baumgartner, Matthias.
|e editor.
|
| 700 |
1 |
|
|a Patterson, Marc.
|e editor.
|
| 700 |
1 |
|
|a Rahman, Shamima.
|e editor.
|
| 700 |
1 |
|
|a Zschocke, Johannes.
|e editor.
|
| 700 |
1 |
|
|a Peters, Verena.
|e editor.
|
| 710 |
2 |
|
|a SpringerLink (Online service)
|
| 773 |
0 |
|
|t Springer eBooks
|