JIMD Reports - JIMD Reports, Volume 37
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15
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Published By Springer Berlin Heidelberg

9783662563588, 9783662563595
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scholarly journals Hyperphenylalaninemia Correlated with Global Decrease of Antioxidant Genes Expression in White Blood Cells of Adult Patients with Phenylketonuria

2017 ◽  
pp. 73-83 ◽  
Author(s):  
Charlotte Veyrat-Durebex ◽  
Christelle Debeissat ◽  
Hélène Blasco ◽  
Franck Patin ◽  
Hélène Henique ◽  
...  
Keyword(s):  
Blood Cells ◽  
White Blood Cells ◽  
Adult Patients ◽  
Antioxidant Genes ◽  
Genes Expression

scholarly journals Neonatal-Onset Hereditary Coproporphyria: A New Variant of Hereditary Coproporphyria

2017 ◽  
pp. 99-106 ◽  
Author(s):  
Kosei Hasegawa ◽  
Hiroyuki Tanaka ◽  
Miho Yamashita ◽  
Yousuke Higuchi ◽  
Takayuki Miyai ◽  
...  
Keyword(s):  
Neonatal Onset ◽  
New Variant ◽  
Hereditary Coproporphyria

scholarly journals Potential Misdiagnosis of Hyperhomocysteinemia due to Cystathionine Beta-Synthase Deficiency During Pregnancy

2017 ◽  
pp. 55-61 ◽  
Author(s):  
Sally P. Stabler ◽  
Cynthia Freehauf ◽  
Robert H. Allen ◽  
Janet Thomas ◽  
Renata Gallagher
Keyword(s):  
Cystathionine Beta Synthase

scholarly journals Systematic Review and Meta-analysis of Intelligence Quotient in Early-Treated Individuals with Classical Galactosemia

2017 ◽  
pp. 115-123 ◽  
Author(s):  
Lindsey Welling ◽  
Susan E. Waisbren ◽  
Kevin M. Antshel ◽  
Hugh-Owen Colhoun ◽  
Matthias Gautschi ◽  
...  
Keyword(s):  
Systematic Review ◽  
Intelligence Quotient ◽  
Meta Analysis ◽  
Classical Galactosemia

scholarly journals The Impact of Fabry Disease on Reproductive Fitness

2017 ◽  
pp. 85-97 ◽  
Author(s):  
Dawn A. Laney ◽  
Virginia Clarke ◽  
Allison Foley ◽  
Eric W. Hall ◽  
Scott E. Gillespie ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Reproductive Fitness ◽  
The Impact

scholarly journals Favourable Outcome in Two Pregnancies in a Patient with 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency

2017 ◽  
pp. 1-5 ◽  
Author(s):  
David Santosa ◽  
Markus G. Donner ◽  
Stephan vom Dahl ◽  
Markus Fleisch ◽  
Thomas Hoehn ◽  
...  
Keyword(s):  
Favourable Outcome ◽  
Lyase Deficiency

scholarly journals Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 Mutation

2017 ◽  
pp. 37-43 ◽  
Author(s):  
Francesca Minoia ◽  
Marta Bertamino ◽  
Paolo Picco ◽  
Mariasavina Severino ◽  
Andrea Rossi ◽  
...  
Keyword(s):  
Leigh Syndrome

scholarly journals Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase Deficiency

2017 ◽  
pp. 63-72 ◽  
Author(s):  
Deeksha S. Bali ◽  
Jennifer L. Goldstein ◽  
Keri Fredrickson ◽  
Stephanie Austin ◽  
Surekha Pendyal ◽  
...  
Keyword(s):  
Molecular Variability
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