JIMD Reports - JIMD Reports - Case and Research Reports, 2012/2
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Published By Springer Berlin Heidelberg

9783642280955, 9783642280962
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scholarly journals Homocysteine Measurement in Dried Blood Spot for Neonatal Detection of Homocystinurias

2011 ◽  
pp. 1-6 ◽  
Author(s):  
Ahmad N. Alodaib ◽  
Kevin Carpenter ◽  
Veronica Wiley ◽  
Tiffany Wotton ◽  
John Christodoulou ◽  
...  
Keyword(s):  
Dried Blood Spot ◽  
Blood Spot

scholarly journals Expanding the Spectrum of PMM2-CDG Phenotype

2011 ◽  
pp. 123-125 ◽  
Author(s):  
Sandrine Vuillaumier-Barrot ◽  
Bertrand Isidor ◽  
Thierry Dupré ◽  
Christiane Le Bizec ◽  
Albert David ◽  
...  

scholarly journals Alkaptonuria: Leading to the Treasure in Exceptions

2011 ◽  
pp. 49-57 ◽  
Author(s):  
Timothy M. Cox

scholarly journals A Rare Galactosemia Complication: Vitreous Hemorrhage

2011 ◽  
pp. 89-93 ◽  
Author(s):  
Sahin Takci ◽  
Sibel Kadayifcilar ◽  
Turgay Coskun ◽  
Sule Yigit ◽  
Burcu Hismi
Keyword(s):  
Vitreous Hemorrhage

scholarly journals Chaperone-Like Therapy with Tetrahydrobiopterin in Clinical Trials for Phenylketonuria: Is Genotype a Predictor of Response?

2011 ◽  
pp. 59-70 ◽  
Author(s):  
Christineh N. Sarkissian ◽  
Alejandra Gamez ◽  
Patrick Scott ◽  
Jerome Dauvillier ◽  
Alejandro Dorenbaum ◽  
...  
Keyword(s):  
Clinical Trials ◽  
Genotype A

scholarly journals Neonatal Cholestasis as Initial Manifestation of Type 2 Gaucher Disease: A Continuum in the Spectrum of Early Onset Gaucher Disease

2011 ◽  
pp. 95-98 ◽  
Author(s):  
Abdallah F. Elias ◽  
Maria Ronningen Johnson ◽  
John K. Boitnott ◽  
David Valle
Keyword(s):  
Early Onset ◽  
Gaucher Disease ◽  
Neonatal Cholestasis ◽  
Initial Manifestation

scholarly journals Pregnancy During Nitisinone Treatment for Tyrosinaemia Type I: First Human Experience

2011 ◽  
pp. 27-33 ◽  
Author(s):  
A. Vanclooster ◽  
R. Devlieger ◽  
W. Meersseman ◽  
A. Spraul ◽  
K. Vande Kerckhove ◽  
...  
Keyword(s):  
Human Experience ◽  
Type I ◽  
Tyrosinaemia Type
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