Molecular Genetics and Metabolism
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Latest Documents Most Cited Documents Contributed Authors Related Sources Related Keywords

Objective light exposure measurements and circadian rhythm in patients with erythropoietic protoporphyria: A case-control study

2022 ◽  
Author(s):  
Debby Wensink ◽  
Margreet A.E.M. Wagenmakers ◽  
Hongchao Qi ◽  
J.H. Paul Wilson ◽  
Janneke G. Langendonk
Keyword(s):  
Circadian Rhythm ◽  
Case Control Study ◽  
Light Exposure ◽  
Case Control ◽  
Erythropoietic Protoporphyria ◽  
Control Study ◽  
Exposure Measurements

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 Cover 2 / Ed. Board

2022 ◽  
Vol 135 (1) ◽  
pp. IFC

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 Perceptions and use of phenylbutyrate metabolite testing in urea cycle disorders: Results of a clinician survey and analysis of a centralized testing database

2021 ◽  
Author(s):  
Can Ficicioglu ◽  
Ning Liu ◽  
Qin Sun ◽  
Andrea Burdett ◽  
Abigail Hata ◽  
...  
Keyword(s):  
Urea Cycle ◽  
Urea Cycle Disorders ◽  
Cycle Disorders

scholarly journals Table of Contents

2021 ◽  
Vol 134 (4) ◽  
pp. iii

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

scholarly journals Current and potential new treatment strategies for creatine deficiency syndromes

2021 ◽  
Author(s):  
Gabriella Fernandes-Pires ◽  
Olivier Braissant
Keyword(s):  
Treatment Strategies ◽  
Creatine Deficiency ◽  
New Treatment
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