JIMD Reports - JIMD Reports - Case and Research Reports, 2012/4
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22
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Published By Springer Berlin Heidelberg

9783642324413, 9783642324420
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scholarly journals The Management of Pregnancy in Maple Syrup Urine Disease: Experience with Two Patients

2013 ◽  
pp. 113-117 ◽  
Author(s):  
Michel Tchan ◽  
M. Westbrook ◽  
G. Wilcox ◽  
R. Cutler ◽  
N. Smith ◽  
...  
Keyword(s):  
Maple Syrup Urine Disease ◽  
Maple Syrup ◽  
Urine Disease ◽  
Disease Experience

scholarly journals Hereditary Intrinsic Factor Deficiency in Chaldeans

2012 ◽  
pp. 13-18 ◽  
Author(s):  
Amy C. Sturm ◽  
Elizabeth C. Baack ◽  
Michael B. Armstrong ◽  
Deborah Schiff ◽  
Ayesha Zia ◽  
...  
Keyword(s):  
Intrinsic Factor ◽  
Factor Deficiency ◽  
Intrinsic Factor Deficiency

scholarly journals Urinary Neopterin and Phenylalanine Loading Test as Tools for the Biochemical Diagnosis of Segawa Disease

2012 ◽  
pp. 67-75 ◽  
Author(s):  
Vincenzo Leuzzi ◽  
Claudia Carducci ◽  
Flavia Chiarotti ◽  
Daniela D’Agnano ◽  
Maria Teresa Giannini ◽  
...  
Keyword(s):  
Loading Test ◽  
Biochemical Diagnosis ◽  
Phenylalanine Loading ◽  
Urinary Neopterin

scholarly journals Nutritional Consequences of Adhering to a Low Phenylalanine Diet for Late-Treated Adults with PKU

2012 ◽  
pp. 109-116 ◽  
Author(s):  
Ingrid Wiig ◽  
Kristina Motzfeldt ◽  
Elin Bjørge Løken ◽  
Bengt Frode Kase

scholarly journals Autism Spectrum Disorder in a Child with Propionic Acidemia

2012 ◽  
pp. 63-66 ◽  
Author(s):  
M. Al-Owain ◽  
N. Kaya ◽  
H. Al-Shamrani ◽  
A. Al-Bakheet ◽  
A. Qari ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Propionic Acidemia ◽  
Autism Spectrum ◽  
Spectrum Disorder

scholarly journals A Case Study of Monozygotic Twins Apparently Homozygous for a Novel Variant of UDP-Galactose 4′-epimerase (GALE)

2012 ◽  
pp. 89-98 ◽  
Author(s):  
Ying Liu ◽  
Kristi Bentler ◽  
Bradford Coffee ◽  
Juliet S. Chhay ◽  
Kyriakie Sarafoglou ◽  
...  
Keyword(s):  
Monozygotic Twins ◽  
Novel Variant

scholarly journals Temporal Intradiploic Dilative Vasculopathy: An Additional Pathogenic Factor for the Hearing Loss in Fabry Disease?

2012 ◽  
pp. 7-12 ◽  
Author(s):  
Carla Pinto Moura ◽  
Carlos Soares ◽  
Daniela Seixas ◽  
Margarida Ayres-Bastos ◽  
João Paulo Oliveira
Keyword(s):  
Hearing Loss ◽  
Fabry Disease ◽  
Pathogenic Factor
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