JIMD Reports - JIMD Reports, Volume 19
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16
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Published By Springer Berlin Heidelberg

9783662461891, 9783662461907
Latest Documents Most Cited Documents Contributed Authors Related Sources Related Keywords

scholarly journals Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India

2014 ◽  
pp. 85-93 ◽  
Author(s):  
Sunita Bijarnia-Mahay ◽  
Sireesha Movva ◽  
Neerja Gupta ◽  
Deepak Sharma ◽  
Ratna D. Puri ◽  
...  
Keyword(s):  
Molecular Diagnosis ◽  
Founder Mutation ◽  
Hereditary Fructose Intolerance ◽  
Fructose Intolerance

scholarly journals Refsum Disease Presenting with a Late-Onset Leukodystrophy

2014 ◽  
pp. 7-10 ◽  
Author(s):  
Flavie Bompaire ◽  
Véronique Marcaud ◽  
Emmanuelle Le Trionnaire ◽  
Frédéric Sedel ◽  
Thierry Levade
Keyword(s):  
Late Onset ◽  
Refsum Disease

scholarly journals Disordered Eating and Body Esteem Among Individuals with Glycogen Storage Disease

2014 ◽  
pp. 23-29 ◽  
Author(s):  
Theresa B. Flanagan ◽  
Jill A. Sutton ◽  
Laurie M. Brown ◽  
David A. Weinstein ◽  
Lisa J. Merlo
Keyword(s):  
Disordered Eating ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Body Esteem ◽  
Glycogen Storage

scholarly journals One Year Experience of Pheburane® (Sodium Phenylbutyrate) Treatment in a Patient with Argininosuccinate Lyase Deficiency

2014 ◽  
pp. 31-33 ◽  
Author(s):  
Sema Kalkan Uçar ◽  
Burcu Ozbaran ◽  
Yasemin Atik Altinok ◽  
Melis Kose ◽  
Ebru Canda ◽  
...  
Keyword(s):  
Argininosuccinate Lyase ◽  
Lyase Deficiency ◽  
One Year ◽  
Sodium Phenylbutyrate

scholarly journals A De Novo Variant in Galactose-1-P Uridylyltransferase (GALT) Leading to Classic Galactosemia

2014 ◽  
pp. 1-6
Author(s):  
Thanh-Thanh V. Tran ◽  
Ying Liu ◽  
Michael E. Zwick ◽  
Dhanya Ramachandran ◽  
David J. Cutler ◽  
...  
Keyword(s):  
De Novo ◽  
Classic Galactosemia ◽  
De Novo Variant

scholarly journals Deep Genotyping of the IDS Gene in Colombian Patients with Hunter Syndrome

2014 ◽  
pp. 101-109 ◽  
Author(s):  
Johanna Galvis ◽  
Jannet González ◽  
Alfredo Uribe ◽  
Harvy Velasco
Keyword(s):  
Hunter Syndrome

scholarly journals A Korean Case of β-Ureidopropionase Deficiency Presenting with Intractable Seizure, Global Developmental Delay, and Microcephaly

2014 ◽  
pp. 117-121 ◽  
Author(s):  
Jun Hwa Lee ◽  
André B. P. van Kuilenburg ◽  
N. G. G. M. Abeling ◽  
Valeria Vasta ◽  
Si Houn Hahn
Keyword(s):  
Developmental Delay ◽  
Global Developmental Delay

scholarly journals Developmental Outcomes of School-Age Children with Duarte Galactosemia: A Pilot Study

2014 ◽  
pp. 75-84 ◽  
Author(s):  
Mary Ellen Lynch ◽  
Nancy L. Potter ◽  
Claire D. Coles ◽  
Judith L. Fridovich-Keil
Keyword(s):  
Pilot Study ◽  
Developmental Outcomes ◽  
School Age Children ◽  
School Age
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