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Publications by Silvia Sequeira
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
Related publications
3-Methylglutaconic Aciduria—lessons From 50 Genes and 977 Patients
Journal of Inherited Metabolic Disease
Genetics
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
Child With a Defect in Leucine Metabolism Associated With Beta-Hydroxyisovaleric Aciduria and Beta-Methylcrotonylglycinuria.
Archives of Disease in Childhood
Child Health
Pediatrics
Perinatology
CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder
American Journal of Human Genetics
Genetics
Is the Special Judo Fitness Test (SJFT) Index Discriminative for Children?
Revista de Artes Marciales Asiáticas
3-Hydroxy-3-Methylglutaric Aciduria
Fatal Mitochondrial Disease Due to Combined Oxidative Phosphorylation Defect Type 3
A G-Protein Editor Gates Coenzyme B12 Loading and Is Corrupted in Methylmalonic Aciduria
Proceedings of the National Academy of Sciences of the United States of America
Multidisciplinary
Lactic Acidosis Due to a Defect in Pyruvate Metabolism in 3 Siblings
Pediatric Research
Child Health
Pediatrics
Perinatology
