JIMD Reports - JIMD Reports, Volume 34
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15
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Published By Springer Berlin Heidelberg

9783662555859, 9783662555866
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scholarly journals Improved Measurement of Brain Phenylalanine and Tyrosine Related to Neuropsychological Functioning in Phenylketonuria

2016 ◽  
pp. 77-86 ◽  
Author(s):  
Susan E. Waisbren ◽  
Sanjay P. Prabhu ◽  
Patricia Greenstein ◽  
Carter Petty ◽  
Donald Schomer ◽  
...  
Keyword(s):  
Neuropsychological Functioning

scholarly journals Delayed Infusion Reactions to Enzyme Replacement Therapies

2016 ◽  
pp. 63-70 ◽  
Author(s):  
Zahra Karimian ◽  
Chester B. Whitley ◽  
Kyle D. Rudser ◽  
Jeanine R. Jarnes Utz
Keyword(s):  
Enzyme Replacement ◽  
Infusion Reactions

scholarly journals Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency and Perioperative Management in Adult Patients

2016 ◽  
pp. 49-54 ◽  
Author(s):  
M. M. Welsink-Karssies ◽  
J. A. W. Polderman ◽  
E. J. Nieveen van Dijkum ◽  
B. Preckel ◽  
W. S. Schlack ◽  
...  
Keyword(s):  
Perioperative Management ◽  
Dehydrogenase Deficiency ◽  
Coenzyme A ◽  
Adult Patients ◽  
Chain Acyl ◽  
Acyl Coenzyme A ◽  
Long Chain

scholarly journals Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review

2016 ◽  
pp. 33-42 ◽  
Author(s):  
Ashwini Maratha ◽  
Hugh-Owen Colhoun ◽  
Ina Knerr ◽  
Karen P. Coss ◽  
Peter Doran ◽  
...  
Keyword(s):  
Classical Galactosaemia

scholarly journals Incidence and Geographic Distribution of Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency

2016 ◽  
pp. 111-115 ◽  
Author(s):  
Savita Verma Attri ◽  
Pratibha Singhi ◽  
Natrujee Wiwattanadittakul ◽  
Jyotindra N. Goswami ◽  
Naveen Sankhyan ◽  
...  
Keyword(s):  
Geographic Distribution ◽  
Succinic Semialdehyde ◽  
Succinic Semialdehyde Dehydrogenase ◽  
Semialdehyde Dehydrogenase ◽  
Ssadh Deficiency

scholarly journals The Spectrum of PAH Mutations and Increase of Milder Forms of Phenylketonuria in Sweden During 1965–2014

2016 ◽  
pp. 19-26 ◽  
Author(s):  
Annika Ohlsson ◽  
Helene Bruhn ◽  
Anna Nordenström ◽  
Rolf H. Zetterström ◽  
Anna Wedell ◽  
...  

scholarly journals DMP1-CDG (CDG1e) with Significant Gastrointestinal Manifestations; Phenotype and Genotype Expansion

2016 ◽  
pp. 27-32 ◽  
Author(s):  
C. Bursle ◽  
D. Brown ◽  
J. Cardinal ◽  
F. Connor ◽  
S. Calvert ◽  
...  
Keyword(s):  
Gastrointestinal Manifestations

scholarly journals Table of Phenylalanine Content of Foods: Comparative Analysis of Data Compiled in Food Composition Tables

2016 ◽  
pp. 87-96
Author(s):  
Ana Claudia Marquim F. Araújo ◽  
Wilma M. C. Araújo ◽  
Ursula M. Lanfer Marquez ◽  
Rita Akutsu ◽  
Eduardo Y. Nakano
Keyword(s):  
Comparative Analysis ◽  
Food Composition ◽  
Food Composition Tables
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