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Journal of Inherited Metabolic Disease
Latest Publications
TOTAL DOCUMENTS
5935
(FIVE YEARS 583)
H-INDEX
99
(FIVE YEARS 18)
Published By Wiley (John Wiley & Sons)
1573-2665, 0141-8955
Latest Documents
Most Cited Documents
Contributed Authors
Related Sources
Related Keywords
Latest Documents
Most Cited Documents
Contributed Authors
Related Sources
Related Keywords
Mitochondrial RNA processing defect caused by a SUPV3L1 mutation in two siblings with a novel neurodegenerative syndrome
Journal of Inherited Metabolic Disease
◽
10.1002/jimd.12476
◽
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
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Charles Rider Roe, MD, Director, Kimberly Courtwright and Joseph Summers Institute of Metabolic Disease at Baylor Medical Center (Scott & White), Dallas, Texas, USA, 1995‐2009; Professor of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA, 1978‐1995 (b Baltimore, Maryland, USA, August 7, 1937; q 1959 Duke University BA, 1965 Duke University, MD; d September 1, 2021)
Journal of Inherited Metabolic Disease
◽
10.1002/jimd.12466
◽
2022
◽
Author(s):
Stephen G. Kahler
◽
Jerry Vockley
Keyword(s):
Metabolic Disease
◽
North Carolina
◽
Medical Center
◽
Duke University
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Clinical characteristics of primary carnitine deficiency ‐ a structured review using a case by case approach
Journal of Inherited Metabolic Disease
◽
10.1002/jimd.12475
◽
2022
◽
Author(s):
Loek L. Crefcoeur
◽
Gepke Visser
◽
Sacha Ferdinandusse
◽
Frits A. Wijburg
◽
Mirjam Langeveld
◽
...
Keyword(s):
Clinical Characteristics
◽
Carnitine Deficiency
◽
Primary Carnitine Deficiency
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Cognitive dysfunction and white matter hyperintensities in Fabry disease
Journal of Inherited Metabolic Disease
◽
10.1002/jimd.12472
◽
2022
◽
Author(s):
P. Murphy
◽
F. Williams
◽
I. Davagnanam
◽
E. Chan
◽
E. Murphy
◽
...
Keyword(s):
White Matter
◽
Fabry Disease
◽
Cognitive Dysfunction
◽
White Matter Hyperintensities
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Body growth, upper arm fat area and clinical parameters in children with nephropathic cystinosis compared with other pediatric CKD entities
Journal of Inherited Metabolic Disease
◽
10.1002/jimd.12473
◽
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
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Glutaminase 2 Knockdown Reduces Hyperammonemia and Associated Lethality of Urea Cycle Disorder Mouse Model
Journal of Inherited Metabolic Disease
◽
10.1002/jimd.12474
◽
2022
◽
Author(s):
Xia Mao
◽
Helen Chen
◽
Allen Lin
◽
Sun Kim
◽
Michael E. Burczynski
◽
...
Keyword(s):
Mouse Model
◽
Urea Cycle
◽
Urea Cycle Disorder
Download Full-text
Issue Information
Journal of Inherited Metabolic Disease
◽
10.1002/jimd.12395
◽
2022
◽
Vol 45
(1)
◽
Download Full-text
Neonatal GALT gene replacement offers metabolic and phenotypic correction through early adulthood in a rat model of classic galactosemia
Journal of Inherited Metabolic Disease
◽
10.1002/jimd.12471
◽
2021
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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
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Creatine transporter deficient rat model shows motor dysfunction, cerebellar alterations and muscle creatine deficiency without muscle atrophy
Journal of Inherited Metabolic Disease
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10.1002/jimd.12470
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2021
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Author(s):
Lara Duran‐Trio
◽
Gabriella Fernandes‐Pires
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Jocelyn Grosse
◽
Ines Soro‐Arnaiz
◽
Clothilde Roux‐Petronelli
◽
...
Keyword(s):
Muscle Atrophy
◽
Rat Model
◽
Motor Dysfunction
◽
Creatine Transporter
◽
Creatine Deficiency
◽
Muscle Creatine
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Is the brain involved in patients with late‐onset Pompe disease?
Journal of Inherited Metabolic Disease
◽
10.1002/jimd.12469
◽
2021
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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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