Amanote Research
Register
Sign In
Discover open access scientific publications
Search, annotate, share and cite publications
Publications by Jan A. M. Smeitink
3-Methylglutaconic Aciduria—lessons From 50 Genes and 977 Patients
Journal of Inherited Metabolic Disease
Genetics
Quantifying Small Molecule Phenotypic Effects Using Mitochondrial Morpho-Functional Fingerprinting and Machine Learning
Scientific Reports
Multidisciplinary
Related publications
Iron‐sulfur Cluster ISD11 Deficiency ( LYRM4 Gene) Presenting as Cardiorespiratory Arrest and 3‐methylglutaconic Aciduria
JIMD Reports
Internal Medicine
Genetics
Molecular Biology
Biochemistry
Endocrinology
Metabolism
Diabetes
Leucine Loading Test Is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH Defect
JIMD Reports
Internal Medicine
Genetics
Molecular Biology
Biochemistry
Endocrinology
Metabolism
Diabetes
CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder
American Journal of Human Genetics
Genetics
3-Hydroxy-3-Methylglutaric Aciduria
CDC's First 50 Years: Lessons Learned and Relearned.
American Journal of Public Health
Environmental
Public Health
Occupational Health
Rare Disease Genes—Lessons and Challenges
Genome Research
Genetics
CDC at 50: Lessons to Be Learned.
American Journal of Public Health
Environmental
Public Health
Occupational Health
Newly Identified Genes Linked to Endometrial Receptiveness: Lessons From IVF
Biomarkers in Medicine
Biochemistry
Drug Discovery
Clinical Biochemistry
3-Hydroxy-3-Methylglutaric Aciduria With Bilateral Basal Ganglia Lesion: A Case Report
Experimental and Therapeutic Medicine
Medicine
Cancer Research
Immunology
Microbiology
