JIMD Reports - JIMD Reports - Volume 12
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20
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10
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Published By Springer International Publishing

9783319034607, 9783319034614
Latest Documents Most Cited Documents Contributed Authors Related Sources Related Keywords

scholarly journals Chiari 1 Malformation and Holocord Syringomyelia in Hunter Syndrome

2013 ◽  
pp. 31-35 ◽  
Author(s):  
Renzo Manara ◽  
Daniela Concolino ◽  
Angelica Rampazzo ◽  
Alessandra Zanetti ◽  
Rossella Tomanin ◽  
...  
Keyword(s):  
Hunter Syndrome ◽  
Chiari 1 Malformation

scholarly journals Novel Association of Early Onset Hepatocellular Carcinoma with Transaldolase Deficiency

2013 ◽  
pp. 121-127 ◽  
Author(s):  
Charles A. LeDuc ◽  
Elizabeth E. Crouch ◽  
Ashley Wilson ◽  
Jay Lefkowitch ◽  
Mirjam M. C. Wamelink ◽  
...  
Keyword(s):  
Hepatocellular Carcinoma ◽  
Early Onset ◽  
Novel Association

scholarly journals No Mutation in the SLC2A3 Gene in Cohorts of GLUT1 Deficiency Syndrome–Like Patients Negative for SLC2A1 and in Patients with AHC Negative for ATP1A3

2013 ◽  
pp. 115-120 ◽  
Author(s):  
C. Le Bizec ◽  
S. Nicole ◽  
E. Panagiotakaki ◽  
N. Seta ◽  
S. Vuillaumier-Barrot
Keyword(s):  
Deficiency Syndrome ◽  
Glut1 Deficiency ◽  
Glut1 Deficiency Syndrome

scholarly journals Accumulation of Ordered Ceramide-Cholesterol Domains in Farber Disease Fibroblasts

2013 ◽  
pp. 71-77 ◽  
Author(s):  
Natalia Santos Ferreira ◽  
Michal Goldschmidt-Arzi ◽  
Helena Sabanay ◽  
Judith Storch ◽  
Thierry Levade ◽  
...  
Keyword(s):  
Farber Disease

scholarly journals Niemann-Pick Disease Type C: New Aspects in a Long Published Family – Partial Manifestations in Heterozygotes

2013 ◽  
pp. 25-29 ◽  
Author(s):  
Klaus Harzer ◽  
Stefanie Beck-Wödl ◽  
Peter Bauer
Keyword(s):  
Disease Type ◽  
Niemann Pick Disease ◽  
Type C ◽  
Niemann Pick ◽  
Pick Disease

scholarly journals A Japanese Adult Case of Guanidinoacetate Methyltransferase Deficiency

2013 ◽  
pp. 65-69 ◽  
Author(s):  
Tomoyuki Akiyama ◽  
Hitoshi Osaka ◽  
Hiroko Shimbo ◽  
Tomoshi Nakajiri ◽  
Katsuhiro Kobayashi ◽  
...  
Keyword(s):  
Adult Case ◽  
Japanese Adult ◽  
Guanidinoacetate Methyltransferase Deficiency

scholarly journals Motor Development Skills of 1- to 4-Year-Old Iranian Children with Early Treated Phenylketonuria

2013 ◽  
pp. 85-89 ◽  
Author(s):  
Sepideh Nazi ◽  
Farzaneh Rohani ◽  
Firoozeh Sajedi ◽  
Akbar Biglarian ◽  
Arya Setoodeh
Keyword(s):  
Motor Development ◽  
Iranian Children

scholarly journals Transient Massive Trimethylaminuria Associated with Food Protein–Induced Enterocolitis Syndrome

2013 ◽  
pp. 11-15 ◽  
Author(s):  
Natalie B. Miller ◽  
Avraham Beigelman ◽  
Elizabeth Utterson ◽  
Marwan Shinawi
Keyword(s):  
Food Protein

scholarly journals Chronic Kidney Disease in an Adult with Propionic Acidemia

2013 ◽  
pp. 5-10 ◽  
Author(s):  
H. J. Vernon ◽  
S. Bagnasco ◽  
A. Hamosh ◽  
C. J. Sperati
Keyword(s):  
Chronic Kidney Disease ◽  
Kidney Disease ◽  
Propionic Acidemia
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