Journal of Inherited Metabolic Disease
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Published By Wiley (John Wiley & Sons)

1573-2665, 0141-8955
Latest Documents Most Cited Documents Contributed Authors Related Sources Related Keywords

scholarly journals Mitochondrial RNA processing defect caused by a SUPV3L1 mutation in two siblings with a novel neurodegenerative syndrome

2022 ◽  
Author(s):  
S.L. van Esveld ◽  
R.J. Rodenburg ◽  
F. Al‐Murshedi ◽  
E Al‐Ajmi ◽  
S Al‐Zuhaibi ◽  
...  
Keyword(s):  
Rna Processing ◽  
Mitochondrial Rna ◽  
Processing Defect

scholarly journals Clinical characteristics of primary carnitine deficiency ‐ a structured review using a case by case approach

2022 ◽  
Author(s):  
Loek L. Crefcoeur ◽  
Gepke Visser ◽  
Sacha Ferdinandusse ◽  
Frits A. Wijburg ◽  
Mirjam Langeveld ◽  
...  
Keyword(s):  
Clinical Characteristics ◽  
Carnitine Deficiency ◽  
Primary Carnitine Deficiency

Cognitive dysfunction and white matter hyperintensities in Fabry disease

2022 ◽  
Author(s):  
P. Murphy ◽  
F. Williams ◽  
I. Davagnanam ◽  
E. Chan ◽  
E. Murphy ◽  
...  
Keyword(s):  
White Matter ◽  
Fabry Disease ◽  
Cognitive Dysfunction ◽  
White Matter Hyperintensities

scholarly journals Body growth, upper arm fat area and clinical parameters in children with nephropathic cystinosis compared with other pediatric CKD entities

2022 ◽  
Author(s):  
Rika Kluck ◽  
Sophia Müller ◽  
Celina Jagodzinski ◽  
Katharina Hohenfellner ◽  
Anja Büscher ◽  
...  
Keyword(s):  
Body Growth ◽  
Nephropathic Cystinosis ◽  
Clinical Parameters ◽  
Upper Arm ◽  
Pediatric Ckd

scholarly journals Glutaminase 2 Knockdown Reduces Hyperammonemia and Associated Lethality of Urea Cycle Disorder Mouse Model

2022 ◽  
Author(s):  
Xia Mao ◽  
Helen Chen ◽  
Allen Lin ◽  
Sun Kim ◽  
Michael E. Burczynski ◽  
...  
Keyword(s):  
Mouse Model ◽  
Urea Cycle ◽  
Urea Cycle Disorder

scholarly journals Neonatal GALT gene replacement offers metabolic and phenotypic correction through early adulthood in a rat model of classic galactosemia

2021 ◽  
Author(s):  
Jennifer M.I. Daenzer ◽  
Shauna A. Rasmussen ◽  
Sneh Patel ◽  
James McKenna ◽  
Judith L. Fridovich‐Keil
Keyword(s):  
Rat Model ◽  
Early Adulthood ◽  
Gene Replacement ◽  
Classic Galactosemia ◽  
Galt Gene

scholarly journals Creatine transporter deficient rat model shows motor dysfunction, cerebellar alterations and muscle creatine deficiency without muscle atrophy

2021 ◽  
Author(s):  
Lara Duran‐Trio ◽  
Gabriella Fernandes‐Pires ◽  
Jocelyn Grosse ◽  
Ines Soro‐Arnaiz ◽  
Clothilde Roux‐Petronelli ◽  
...  
Keyword(s):  
Muscle Atrophy ◽  
Rat Model ◽  
Motor Dysfunction ◽  
Creatine Transporter ◽  
Creatine Deficiency ◽  
Muscle Creatine

scholarly journals Is the brain involved in patients with late‐onset Pompe disease?

2021 ◽  
Author(s):  
Jan J A Dorpel ◽  
Willemijn M.C. Vlugt ◽  
Marjolein H.G. Dremmen ◽  
Ryan Muetzel ◽  
Esther Berg ◽  
...  
Keyword(s):  
Pompe Disease ◽  
Late Onset ◽  
The Brain
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