JIMD Reports - JIMD Reports - Volume 10
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Published By Springer Berlin Heidelberg

9783642373336, 9783642373343
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scholarly journals Sight-Threatening Phenylketonuric Encephalopathy in a Young Adult, Reversed by Diet

2012 ◽  
pp. 83-85 ◽  
Author(s):  
S. Rubin ◽  
A. L. Le Piffer ◽  
M. B. Rougier ◽  
M. N. Delyfer ◽  
J. F. Korobelnik ◽  
...  
Keyword(s):  
Young Adult

scholarly journals Long-Term Follow-up of a Successfully Treated Case of Congenital Pyridoxine-Dependent Epilepsy

2012 ◽  
pp. 103-106 ◽  
Author(s):  
Malcolm Proudfoot ◽  
Philip Jardine ◽  
Agne Straukiene ◽  
Rupert Noad ◽  
Andrew Parrish ◽  
...  
Keyword(s):  
Long Term Follow Up

scholarly journals MNGIE Syndrome: Liver Cirrhosis Should Be Ruled Out Prior to Bone Marrow Transplantation

2012 ◽  
pp. 41-44 ◽  
Author(s):  
Armin Finkenstedt ◽  
Melanie Schranz ◽  
Sylvia Bösch ◽  
Daniela Karall ◽  
Sabine Scholl Bürgi ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Liver Cirrhosis ◽  
Bone Marrow Transplantation ◽  
Marrow Transplantation

scholarly journals Pyruvate Dehydrogenase-E1α Deficiency Presenting as Recurrent Demyelination: An Unusual Presentation and a Novel Mutation

2012 ◽  
pp. 107-111 ◽  
Author(s):  
Pratibha Singhi ◽  
Linda De Meirleir ◽  
Willy Lissens ◽  
Sunit Singhi ◽  
Arushi Gahlot Saini
Keyword(s):  
Pyruvate Dehydrogenase ◽  
Novel Mutation ◽  
Unusual Presentation

scholarly journals Stem Cell Transplantation for Adult-Onset Krabbe Disease: Report of a Case

2012 ◽  
pp. 57-59 ◽  
Author(s):  
Madeleine E. Sharp ◽  
Cornelia Laule ◽  
Stephen Nantel ◽  
Burkhard Mädler ◽  
Ritu B. Aul ◽  
...  
Keyword(s):  
Stem Cell ◽  
Stem Cell Transplantation ◽  
Cell Transplantation ◽  
Krabbe Disease ◽  
Adult Onset

scholarly journals NDUFS8-related Complex I Deficiency Extends Phenotype from “PEO Plus” to Leigh Syndrome

2012 ◽  
pp. 17-22 ◽  
Author(s):  
Adela Della Marina ◽  
Ulrike Schara ◽  
Angela Pyle ◽  
Claudia Möller-Hartmann ◽  
Elke Holinski-Feder ◽  
...  
Keyword(s):  
Complex I ◽  
Leigh Syndrome ◽  
Complex I Deficiency ◽  
Related Complex

scholarly journals Dihydropteridine Reductase Deficiency and Treatment with Tetrahydrobiopterin: A Case Report

2012 ◽  
pp. 53-56 ◽  
Author(s):  
Curtis R. Coughlin ◽  
Keith Hyland ◽  
Rebecca Randall ◽  
Can Ficicioglu
Keyword(s):  
Case Report ◽  
Dihydropteridine Reductase ◽  
Reductase Deficiency

scholarly journals Detection by Urinary GAG Testing of Mucopolysaccharidosis Type II in an At-Risk Spanish Population

2012 ◽  
pp. 61-68 ◽  
Author(s):  
Laura López-Marín ◽  
Luis G. Gutiérrez-Solana ◽  
Luis Aldamiz-Echevarria Azuara ◽  
Rogelio Simón de las Heras ◽  
Anna Duat Rodríguez ◽  
...  
Keyword(s):  
At Risk ◽  
Spanish Population ◽  
Mucopolysaccharidosis Type ◽  
Type Ii ◽  
Mucopolysaccharidosis Type Ii
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