JIMD Reports - JIMD Reports, Volume 32
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15
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5
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Published By Springer Berlin Heidelberg

9783662543849, 9783662543856
Latest Documents Most Cited Documents Contributed Authors Related Sources Related Keywords

scholarly journals Four Years of Diagnostic Challenges with Tetrahydrobiopterin Deficiencies in Iranian Patients

2016 ◽  
pp. 7-14 ◽  
Author(s):  
Shohreh Khatami ◽  
Soghra Rouhi Dehnabeh ◽  
Sirous Zeinali ◽  
Beat Thöny ◽  
Mohammadreza Alaei ◽  
...  
Keyword(s):  
Iranian Patients

scholarly journals Newborn Screening for Vitamin B6 Non-responsive Classical Homocystinuria: Systematical Evaluation of a Two-Tier Strategy

2016 ◽  
pp. 87-94 ◽  
Author(s):  
Jürgen G. Okun ◽  
Hongying Gan-Schreier ◽  
Tawfeq Ben-Omran ◽  
Kathrin V. Schmidt ◽  
Junmin Fang-Hoffmann ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Vitamin B6

scholarly journals Relationships Between Childhood Experiences and Adulthood Outcomes in Women with PKU: A Qualitative Analysis

2016 ◽  
pp. 41-49 ◽  
Author(s):  
Rachel M. Roberts ◽  
Tamara Muller ◽  
Annabel Sweeney ◽  
Drago Bratkovic ◽  
Anne Gannoni ◽  
...  
Keyword(s):  
Qualitative Analysis ◽  
Childhood Experiences

scholarly journals Hydroxysteroid 17-Beta Dehydrogenase Type 10 Disease in Siblings

2016 ◽  
pp. 25-32 ◽  
Author(s):  
Annely Richardson ◽  
Gerard T. Berry ◽  
Cheryl Garganta ◽  
Mary-Alice Abbott

scholarly journals Rare Case of Hepatic Gaucheroma in a Child on Enzyme Replacement Therapy

2016 ◽  
pp. 101-104 ◽  
Author(s):  
Sophy Korula ◽  
Penny Owens ◽  
Amanda Charlton ◽  
Kaustuv Bhattacharya
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Rare Case ◽  
Enzyme Replacement

scholarly journals Management of an LCHADD Patient During Pregnancy and High Intensity Exercise

2016 ◽  
pp. 95-100 ◽  
Author(s):  
D. C. D. van Eerd ◽  
I. A. Brussé ◽  
V. F. R. Adriaens ◽  
R. T. Mankowski ◽  
S. F. E. Praet ◽  
...  
Keyword(s):  
High Intensity ◽  
High Intensity Exercise

scholarly journals The Effect of S-Adenosylmethionine on Self-Mutilation in a Patient with Lesch–Nyhan Disease

2016 ◽  
pp. 51-57 ◽  
Author(s):  
Matthias Lauber ◽  
Barbara Plecko ◽  
Miriam Pfiffner ◽  
Jean-Marc Nuoffer ◽  
Johannes Häberle
Keyword(s):  
Self Mutilation

scholarly journals A Multiplatform Metabolomics Approach to Characterize Plasma Levels of Phenylalanine and Tyrosine in Phenylketonuria

2016 ◽  
pp. 69-79 ◽  
Author(s):  
H. Blasco ◽  
C. Veyrat-Durebex ◽  
M. Bertrand ◽  
F. Patin ◽  
F. Labarthe ◽  
...  
Keyword(s):  
Plasma Levels
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