Jaime M. Brum

Brasilia, DF 70910900, Brazil

Last Updated: 09/26/2026

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Found 12 publications

Diagnosis of Congenital Disorders of Glycosylation Type II Subtypes Through Comprehensive N-Glycan Profiling by Mass Spectrometry.

Diagnosis of Congenital Disorders of Glycosylation Type II Subtypes Through Comprehensive N-Glycan Profiling by Mass Spectrometry.

Journal: International journal of molecular sciences

Published: June 06, 2026

Synergistic use of glycomics and single-molecule molecular inversion probes for identification of congenital disorders of glycosylation type-1.

Synergistic use of glycomics and single-molecule molecular inversion probes for identification of congenital disorders of glycosylation type-1.

Journal: Journal of inherited metabolic disease

Published: August 22, 2021

Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homozygous variant in MBTPS1.

Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homozygous variant in MBTPS1.

Journal: American journal of medical genetics. Part A

Published: February 21, 2020

Relative quantification of plasma N-glycans in type II congenital disorder of glycosylation patients by mass spectrometry.

Relative quantification of plasma N-glycans in type II congenital disorder of glycosylation patients by mass spectrometry.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: November 05, 2018

Analysis of mutations in EXT1 and EXT2 in Brazilian patients with multiple osteochondromas.

Analysis of mutations in EXT1 and EXT2 in Brazilian patients with multiple osteochondromas.

Journal: Molecular genetics & genomic medicine

Published: June 30, 2017

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

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

Journal: Journal of inherited metabolic disease

Published: July 23, 2015

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

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

Journal: Brain : a journal of neurology

Published: February 26, 2014

Computed tomography and magnetic resonance imaging in the osseous phase of Nasu-Hakola disease.

Computed tomography and magnetic resonance imaging in the osseous phase of Nasu-Hakola disease.

Journal: Arquivos de neuro-psiquiatria

Published: January 26, 2014

Diagnosing lysosomal storage diseases in a Brazilian non-newborn population by tandem mass spectrometry.

Diagnosing lysosomal storage diseases in a Brazilian non-newborn population by tandem mass spectrometry.

Journal: Clinics (Sao Paulo, Brazil)

Published: May 22, 2013

Analysis of novel ARG1 mutations causing hyperargininemia and correlation with arginase I activity in erythrocytes.

Analysis of novel ARG1 mutations causing hyperargininemia and correlation with arginase I activity in erythrocytes.

Journal: Gene

Published: March 17, 2012

Brain MRI and magnetic resonance spectroscopy findings in patients with hyperargininemia.

Brain MRI and magnetic resonance spectroscopy findings in patients with hyperargininemia.

Journal: Journal of neuroimaging : official journal of the American Society of Neuroimaging

Published: February 27, 2012

Clinical features and neurologic progression of hyperargininemia.

Clinical features and neurologic progression of hyperargininemia.

Journal: Pediatric neurology

Published: January 09, 2012

Showing 1-12 of 12

Last Updated: 09/26/2026