JIMD Reports - JIMD Reports, Volume 25
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15
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7
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Published By Springer Berlin Heidelberg

9783662496671, 9783662496688
Latest Documents Most Cited Documents Contributed Authors Related Sources Related Keywords

scholarly journals Exercise Intolerance and Myoglobinuria Associated with a Novel Maternally Inherited MT-ND1 Mutation

2015 ◽  
pp. 65-70 ◽  
Author(s):  
Jabin Rafiq ◽  
Morten Duno ◽  
Elsebet Østergaard ◽  
Kirstine Ravn ◽  
Christoffer R. Vissing ◽  
...  
Keyword(s):  
Exercise Intolerance

scholarly journals Liver Fibrosis Associated with Iron Accumulation Due to Long-Term Heme-Arginate Treatment in Acute Intermittent Porphyria: A Case Series

2015 ◽  
pp. 77-81 ◽  
Author(s):  
Barbara Willandt ◽  
Janneke G. Langendonk ◽  
Katharina Biermann ◽  
Wouter Meersseman ◽  
François D’Heygere ◽  
...  
Keyword(s):  
Liver Fibrosis ◽  
Case Series ◽  
Acute Intermittent Porphyria ◽  
Iron Accumulation ◽  
Heme Arginate

scholarly journals Vitamin E Improves Clinical Outcome of Patients Affected by Glycogen Storage Disease Type Ib

2015 ◽  
pp. 39-45 ◽  
Author(s):  
Daniela Melis ◽  
Giorgia Minopoli ◽  
Francesca Balivo ◽  
Paola Marcolongo ◽  
Rossella Parini ◽  
...  
Keyword(s):  
Vitamin E ◽  
Clinical Outcome ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type

scholarly journals PNPO Deficiency and Cirrhosis: Expanding the Clinical Phenotype?

2015 ◽  
pp. 71-75 ◽  
Author(s):  
D. Coman ◽  
P. Lewindon ◽  
P. Clayton ◽  
K. Riney
Keyword(s):  
Clinical Phenotype

scholarly journals Coenzyme Q10 and Pyridoxal Phosphate Deficiency Is a Common Feature in Mucopolysaccharidosis Type III

2015 ◽  
pp. 1-7 ◽  
Author(s):  
Dèlia Yubero ◽  
Raquel Montero ◽  
Mar O’Callaghan ◽  
Mercè Pineda ◽  
Silvia Meavilla ◽  
...  
Keyword(s):  
Coenzyme Q10 ◽  
Pyridoxal Phosphate ◽  
Phosphate Deficiency ◽  
Mucopolysaccharidosis Type ◽  
Type Iii ◽  
Mucopolysaccharidosis Type Iii

scholarly journals Screening Mucopolysaccharidosis Type IX in Patients with Juvenile Idiopathic Arthritis

2015 ◽  
pp. 21-24 ◽  
Author(s):  
Ertugrul Kiykim ◽  
Kenan Barut ◽  
Mehmet Serif Cansever ◽  
Cigdem Aktuglu Zeybek ◽  
Tanyel Zubarioglu ◽  
...  
Keyword(s):  
Juvenile Idiopathic Arthritis ◽  
Mucopolysaccharidosis Type

scholarly journals The Spectrum of Krabbe Disease in Greece: Biochemical and Molecular Findings

2015 ◽  
pp. 57-64 ◽  
Author(s):  
Evangelia Dimitriou ◽  
Monica Cozar ◽  
Irene Mavridou ◽  
Daniel Grinberg ◽  
Lluïsa Vilageliu ◽  
...  
Keyword(s):  
Krabbe Disease

scholarly journals New Cases of DHTKD1 Mutations in Patients with 2-Ketoadipic Aciduria

2015 ◽  
pp. 15-19 ◽  
Author(s):  
Ashlee R. Stiles ◽  
Leah Venturoni ◽  
Grace Mucci ◽  
Naser Elbalalesy ◽  
Michael Woontner ◽  
...  
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