JIMD Reports - JIMD Reports, Volume 21
Latest Publications

TOTAL DOCUMENTS

16
(FIVE YEARS 0)

H-INDEX

6
(FIVE YEARS 0)

Published By Springer Berlin Heidelberg

9783662471715, 9783662471722
Latest Documents Most Cited Documents Contributed Authors Related Sources Related Keywords

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 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 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 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

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
Load More ...
Sign in / Sign up

Export Citation Format

Share Document