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Home > JIMD Reports, Volume 25 > Exercise Intolerance and Myoglobinuria Associated with a Novel Maternally Inherited MT-ND1 Mutation
JIMD Reports, Volume 25 |
Eva Morava; Matthias Baumgartner; Marc Patterson; Shamima Rahman; Johannes Zschocke; Verena Peters
Springer Berlin Heidelberg
JIMD Reports, Volume 25
Exercise Intolerance and Myoglobinuria Associated with a Novel Maternally Inherited MT-ND1 Mutation
Authors

Jabin Rafiq; Morten Duno; Elsebet Østergaard; Kirstine Ravn; Christoffer R. Vissing; Flemming Wibrand et al.

ARI Id

1664573285037_2256344

Access

Not Available Free

Pages

65-70

DOI

10.1007/8904_2015_459

Chapter URL

https://rd.springer.com/chapter/10.1007/8904_2015_459

Table of Contents of Book
Showing 1 to 16 of 16 entries
Chapters/HeadingsAuthor(s)PagesInfo
Front Matter
i-vi
Coenzyme Q10 and Pyridoxal Phosphate Deficiency Is a Common Feature in Mucopolysaccharidosis Type III
Dèlia Yubero; Raquel Montero; Mar O’Callaghan; Mercè Pineda; Silvia Meavilla; Veronica Delgadillo et al.
1-7
Pitfalls in Diagnosing Neuraminidase Deficiency: Psychosomatics and Normal Sialic Acid Excretion
Imre F. Schene; Viera Kalinina Ayuso; Monique de Sain-van der Velden; Koen L. I. van Gassen; Inge Cuppen; Peter M. van Hasselt et al.
9-13
New Cases of DHTKD1 Mutations in Patients with 2-Ketoadipic Aciduria
Ashlee R. Stiles; Leah Venturoni; Grace Mucci; Naser Elbalalesy; Michael Woontner; Stephen Goodman et al.
15-19
Screening Mucopolysaccharidosis Type IX in Patients with Juvenile Idiopathic Arthritis
Ertugrul Kiykim; Kenan Barut; Mehmet Serif Cansever; Cigdem Aktuglu Zeybek; Tanyel Zubarioglu; Ahmet Aydin et al.
21-24
The Pathobiochemistry of Gastrointestinal Symptoms in a Patient with Niemann-Pick Type C Disease
Mahdi Amiri; Eva-Maria Kuech; Hadeel Shammas; Gabi Wetzel; Hassan Y. Naim
25-29
Improvement of Diffusion Tensor Imaging (DTI) Parameters with Decoppering Treatment in Wilson’s Disease
A. Lawrence; J. Saini; S. Sinha; S. Rao; M. Naggappa; P. S. Bindu et al.
31-37
Vitamin E Improves Clinical Outcome of Patients Affected by Glycogen Storage Disease Type Ib
Daniela Melis; Giorgia Minopoli; Francesca Balivo; Paola Marcolongo; Rossella Parini; Sabrina Paci et al.
39-45
Urine Beta2-Microglobulin Is an Early Marker of Renal Involvement in LPI
Mari Kärki; Kirsti Näntö-Salonen; Harri Niinikoski; Laura M. Tanner
47-55
The Spectrum of Krabbe Disease in Greece: Biochemical and Molecular Findings
Evangelia Dimitriou; Monica Cozar; Irene Mavridou; Daniel Grinberg; Lluïsa Vilageliu; Helen Michelakakis
57-64
Exercise Intolerance and Myoglobinuria Associated with a Novel Maternally Inherited MT-ND1 Mutation
Jabin Rafiq; Morten Duno; Elsebet Østergaard; Kirstine Ravn; Christoffer R. Vissing; Flemming Wibrand et al.
65-70
PNPO Deficiency and Cirrhosis: Expanding the Clinical Phenotype?
D. Coman; P. Lewindon; P. Clayton; K. Riney
71-75
Liver Fibrosis Associated with Iron Accumulation Due to Long-Term Heme-Arginate Treatment in Acute Intermittent Porphyria: A Case Series
Barbara Willandt; Janneke G. Langendonk; Katharina Biermann; Wouter Meersseman; François D’Heygere; Christophe George et al.
77-81
GM2-Gangliosidosis, AB Variant: Clinical, Ophthalmological, MRI, and Molecular Findings
Deborah Renaud; Michael Brodsky
83-86
Successful Domino Liver Transplantation from a Patient with Methylmalonic Acidemia
A. Khanna; R. Gish; S. C. Winter; W. L. Nyhan; B. A. Barshop
87-94
Reduction of Plasma Globotriaosylsphingosine Levels After Switching from Agalsidase Alfa to Agalsidase Beta as Enzyme Replacement Therapy for Fabry Disease
Ozlem Goker-Alpan; Michael J. Gambello; Gustavo H. B. Maegawa; Khan J. Nedd; Daniel J. Gruskin; Larry Blankstein et al.
95-106
Chapters/HeadingsAuthor(s)PagesInfo
Showing 1 to 16 of 16 entries
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