Jaime Moritz Brum

Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients

Úrsula da Silveira Matte, Gouri Yogalingam, Doug A. Brooks et al. · Molecular Genetics and Metabolism · 2003 · 88 citations

New Mutations, Mucopolysaccharidosis Type, Immunodeficiencies +5

Genotype–phenotype spectrum of PYCR1-related autosomal recessive cutis laxa

Aikaterini Dimopoulou, Björn Fischer‐Zirnsak, Thatjana Gardeitchik et al. · Molecular Genetics and Metabolism · 2013 · 71 citations

Biology, Genetic Disorder, Genetics +6

Clinical Features and Neurologic Progression of Hyperargininemia

Daniel R. Carvalho, Jaime Moritz Brum, Carlos E. Speck‐Martins et al. · Pediatric Neurology · 2012 · 54 citations

Electrolyte Disorder, Hyperthermia, Neurophysiology +7

Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency

Monique van Scherpenzeel, Sharita Timal, Daisy Rymen et al. · Brain · 2014 · 53 citations · Full text

Genetics, Glycobiology, Pathology +19

Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency

Martina Huemer, Daniel R. Carvalho, Jaime Moritz Brum et al. · Journal of Inherited Metabolic Disease · 2016 · 38 citations