JIMD Reports - JIMD Reports - Case and Research Reports, 2012/5
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Published By Springer Berlin Heidelberg

9783642334320, 9783642334337
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scholarly journals A Pilot Study of the Effect of (E, E)-2, 4-Undecadienal on the Offensive Odour of Trimethylamine

2012 ◽  
pp. 11-15 ◽  
Author(s):  
Pankaj Garg ◽  
Kevin Carpenter ◽  
Shanley Chong ◽  
John Christodoulou
Keyword(s):  
Pilot Study ◽  
Offensive Odour

scholarly journals Inheritance of the m.3243A>G mutation

2012 ◽  
pp. 47-50 ◽  
Author(s):  
Paul de Laat ◽  
Saskia Koene ◽  
Lambert P. W. J. vd Heuvel ◽  
Richard J. T. Rodenburg ◽  
Mirian C. H. Janssen ◽  
...  

scholarly journals Questioning the Pathogenic Role of the GLA p.Ala143Thr “Mutation” in Fabry Disease: Implications for Screening Studies and ERT

2012 ◽  
pp. 101-108 ◽  
Author(s):  
W. Terryn ◽  
R. Vanholder ◽  
D. Hemelsoet ◽  
B. P. Leroy ◽  
W. Van Biesen ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Pathogenic Role

scholarly journals Barriers to Transplantation in Adults with Inborn Errors of Metabolism

2012 ◽  
pp. 139-144 ◽  
Author(s):  
S. M. Sirrs ◽  
H. Faghfoury ◽  
E. M. Yoshida ◽  
T. Geberhiwot
Keyword(s):  
Inborn Errors Of Metabolism ◽  
Inborn Errors

scholarly journals cblE-Type Homocystinuria Presenting with Features of Haemolytic-Uremic Syndrome in the Newborn Period

2012 ◽  
pp. 57-62 ◽  
Author(s):  
Daniel Palanca ◽  
Angels Garcia-Cazorla ◽  
Jessica Ortiz ◽  
Cristina Jou ◽  
Victoria Cusí ◽  
...  
Keyword(s):  
Newborn Period ◽  
Haemolytic Uremic Syndrome ◽  
Uremic Syndrome

scholarly journals A Systematic Review of BH4 (Sapropterin) for the Adjuvant Treatment of Phenylketonuria

2012 ◽  
pp. 109-119 ◽  
Author(s):  
Mary Lou Lindegren ◽  
Shanthi Krishnaswami ◽  
Tyler Reimschisel ◽  
Christopher Fonnesbeck ◽  
Nila A. Sathe ◽  
...  
Keyword(s):  
Systematic Review ◽  
Adjuvant Treatment

scholarly journals Neonatal Bone Marrow Transplantation in MPS IIIA Mice

2012 ◽  
pp. 121-132 ◽  
Author(s):  
Adeline A Lau ◽  
N. Jannah Shamsani ◽  
Leanne K. Winner ◽  
Sofia Hassiotis ◽  
Barbara M. King ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Bone Marrow Transplantation ◽  
Marrow Transplantation ◽  
Mps Iiia

scholarly journals Recommendations on Reintroduction of Agalsidase Beta for Patients with Fabry Disease in Europe, Following a Period of Shortage

2012 ◽  
pp. 51-56 ◽  
Author(s):  
Gabor E. Linthorst ◽  
Alessandro P. Burlina ◽  
Franco Cecchi ◽  
Timothy M. Cox ◽  
Janice M. Fletcher ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Agalsidase Beta
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