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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.
JIMD Reports, Volume 25
Eva Morava; Matthias Baumgartner; Marc Patterson; Shamima Rahman; Johannes Zschocke; Verena Peters
1st ed. 2016
Springer Berlin Heidelberg
Normal Levels of Plasma Free Carnitine and Acylcarnitines in Follow-Up Samples from a Presymptomatic Case of Carnitine Palmitoyl Transferase 1 (CPT1) Deficiency Detected Through Newborn Screening in Denmark
Luise Borch; Allan Meldgaard Lund; Flemming Wibrand; Ernst Christensen; Charlotte Søndergaard; Birthe Gahrn et al.
JIMD Reports - Case and Research Reports, 2011/3
SSIEM
2012
Springer Berlin Heidelberg
A Patient with Complex I Deficiency Caused by a Novel ACAD9 Mutation Not Responding to Riboflavin Treatment
Jessica Nouws; Flemming Wibrand; Mariël van den Brand; Hanka Venselaar; Morten Duno; Allan M. Lund et al.
JIMD Reports - Volume 12
Johannes Zschocke; K Michael Gibson; Garry Brown; Eva Morava; Verena Peters
2014
Springer International Publishing
Alu-Alu Recombination Underlying the First Large Genomic Deletion in GlcNAc-Phosphotransferase Alpha/Beta (GNPTAB) Gene in a MLII Alpha/Beta Patient
Maria Francisca Coutinho; Liliana da Silva Santos; Lúcia Lacerda; Sofia Quental; Flemming Wibrand; Allan M. Lund et al.
JIMD Reports - Case and Research Reports, 2012/1
SSIEM
2012
Springer Berlin Heidelberg
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Showing 1 to 4 of 4 entries