Molecular Genetics and Metabolism
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Quantitative brain MRI morphology in severe and attenuated forms of mucopolysaccharidosis type I

2022 ◽  
Author(s):  
Victor Kovac ◽  
Elsa G. Shapiro ◽  
Kyle D. Rudser ◽  
Bryon A. Mueller ◽  
Julie B. Eisengart ◽  
...  
Keyword(s):  
Brain Mri ◽  
Type I ◽  
Mucopolysaccharidosis Type ◽  
Mucopolysaccharidosis Type I

scholarly journals Feasible and clinical relevant outcome measures for adults with mitochondrial disease

2021 ◽  
Author(s):  
Peggy M.J. Bergs ◽  
Daphne M. Maas ◽  
Mirian C.H. Janssen ◽  
Jan T. Groothuis
Keyword(s):  
Outcome Measures ◽  
Mitochondrial Disease ◽  
Relevant Outcome

Stroke and stroke-like episodes in inborn errors of metabolism: Pathophysiological and clinical implications

2021 ◽  
Author(s):  
Mario Mastrangelo ◽  
Giacomina Ricciardi ◽  
Laura Giordo ◽  
Manuela De Michele ◽  
Danilo Toni ◽  
...  
Keyword(s):  
Inborn Errors Of Metabolism ◽  
Clinical Implications ◽  
Inborn Errors

Disorders of purine biosynthesis metabolism

2021 ◽  
Author(s):  
Joseph P. Dewulf ◽  
Sandrine Marie ◽  
Marie-Cécile Nassogne
Keyword(s):  
Purine Biosynthesis

scholarly journals An observational, prospective, multicenter, natural history study of patients with mucopolysaccharidosis type IIIA

2021 ◽  
Author(s):  
Frits A. Wijburg ◽  
Karen Aiach ◽  
Anupam Chakrapani ◽  
Julie B. Eisengart ◽  
Roberto Giugliani ◽  
...  
Keyword(s):  
Natural History ◽  
Mucopolysaccharidosis Type ◽  
Natural History Study ◽  
Type Iiia ◽  
Mucopolysaccharidosis Type Iiia
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