JIMD Reports - JIMD Reports, Volume 21
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Published By Springer Berlin Heidelberg

9783662471715, 9783662471722
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scholarly journals Infantile Cases of Sitosterolaemia with Novel Mutations in the ABCG5 Gene: Extreme Hypercholesterolaemia is Exacerbated by Breastfeeding

2015 ◽  
pp. 115-122 ◽  
Author(s):  
Hayato Tada ◽  
Masa-aki Kawashiri ◽  
Mutsuko Takata ◽  
Kunihiro Matsunami ◽  
Atsushi Imamura ◽  
...  
Keyword(s):  
Novel Mutations

scholarly journals Molecular Characterization of QDPR Gene in Iranian Families with BH4 Deficiency: Reporting Novel and Recurrent Mutations

2015 ◽  
pp. 123-128 ◽  
Author(s):  
Hannaneh Foroozani ◽  
Maryam Abiri ◽  
Shadab Salehpour ◽  
Hamideh Bagherian ◽  
Zohreh Sharifi ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Recurrent Mutations

scholarly journals Maternal Phenylketonuria: Long-term Outcomes in Offspring and Post-pregnancy Maternal Characteristics

2014 ◽  
pp. 23-33 ◽  
Author(s):  
S. E. Waisbren ◽  
F. Rohr ◽  
V. Anastasoaie ◽  
M. Brown ◽  
D. Harris ◽  
...  
Keyword(s):  
Maternal Phenylketonuria ◽  
Long Term Outcomes ◽  
Maternal Characteristics

scholarly journals Metabolic Clinic Atlas: Organization of Care for Children with Inherited Metabolic Disease in Canada

2014 ◽  
pp. 15-22 ◽  
Author(s):  
Monica F. Lamoureux ◽  
◽  
Kylie Tingley ◽  
Jonathan B. Kronick ◽  
Beth K. Potter ◽  
...  
Keyword(s):  
Metabolic Disease ◽  
Inherited Metabolic Disease ◽  
Organization Of Care

scholarly journals Erratum to: Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian Patients

2014 ◽  
pp. 129-129
Author(s):  
Neerja Gupta ◽  
Pawan Kumar Singh ◽  
Manoj Kumar ◽  
Shivaram Shastri ◽  
Sheffali Gulati ◽  
...  
Keyword(s):  
Molecular Profile ◽  
Novel Mutations ◽  
Indian Patients

scholarly journals Is l-Carnitine Supplementation Beneficial in 3-Methylcrotonyl-CoA Carboxylase Deficiency?

2014 ◽  
pp. 79-88 ◽  
Author(s):  
Jákup Andreas Thomsen ◽  
Allan Meldgaard Lund ◽  
Jess Have Olesen ◽  
Magni Mohr ◽  
Jan Rasmussen
Keyword(s):  
Carnitine Supplementation

scholarly journals Diet History Is a Reliable Predictor of Suboptimal Docosahexaenoic Acid Levels in Adult Patients with Phenylketonuria

2014 ◽  
pp. 97-102 ◽  
Author(s):  
T. Bosdet ◽  
J. Branov ◽  
C. Selvage ◽  
M. Yousefi ◽  
S. Sirrs
Keyword(s):  
Docosahexaenoic Acid ◽  
Adult Patients ◽  
Reliable Predictor ◽  
Diet History

scholarly journals Autophagy in Natural History and After ERT in Glycogenosis Type II

2014 ◽  
pp. 71-77 ◽  
Author(s):  
Corrado Angelini ◽  
Anna C. Nascimbeni ◽  
Marina Fanin
Keyword(s):  
Natural History ◽  
Type Ii ◽  
Glycogenosis Type ◽  
Glycogenosis Type Ii

scholarly journals Successful Pregnancy in a Woman with Maple Syrup Urine Disease: Case Report

2014 ◽  
pp. 103-107 ◽  
Author(s):  
Stefanie Heiber ◽  
Henryk Zulewski ◽  
Marianne Zaugg ◽  
Caroline Kiss ◽  
Matthias Baumgartner
Keyword(s):  
Case Report ◽  
Maple Syrup Urine Disease ◽  
Successful Pregnancy ◽  
Maple Syrup ◽  
Disease Case ◽  
Urine Disease

scholarly journals Hepatic Copper Accumulation: A Novel Feature in Transient Infantile Liver Failure Due to TRMU Mutations?

2014 ◽  
pp. 109-113 ◽  
Author(s):  
Z. Grover ◽  
P. Lewindon ◽  
A. Clousten ◽  
A. Shaag ◽  
O. Elpeleg ◽  
...  
Keyword(s):  
Liver Failure ◽  
Copper Accumulation ◽  
Hepatic Copper
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