Publications by authors named "Jaime M Brum"

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Synergistic use of glycomics and single-molecule molecular inversion probes for identification of congenital disorders of glycosylation type-1.
Nurulamin Abu Bakar, Angel Ashikov, Jaime Moritz Brum, Roel Smeets, Marjan Kersten

J Inherit Metab Dis· July 2022

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Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homozygous variant in MBTPS1.
Daniel R Carvalho, Carlos E Speck-Martins, Jaime M Brum, Carlos R Ferreira, Nara L M Sobreira

Am J Med Genet A· July 2020

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Analysis of mutations in EXT1 and EXT2 in Brazilian patients with multiple osteochondromas.
Savana C L Santos, Isabela M P O Rizzo, Reinaldo I Takata, Carlos E Speck-Martins, Jaime M Brum

Mol Genet Genomic Med· May 2018

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Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency.
Martina Huemer, Daniel R Carvalho, Jaime M Brum, Özlem Ünal, Turgay Coskun

J Inherit Metab Dis· May 2016

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Brain MRI and magnetic resonance spectroscopy findings in patients with hyperargininemia.
Daniel R Carvalho, Luciano Farage, Bernardo Jaf Martins, Jaime M Brum, Carlos E Speck-Martins

J Neuroimaging· April 2015

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Computed tomography and magnetic resonance imaging in the osseous phase of Nasu-Hakola disease.
Christiana Brenner, Carlos Eduardo Speck-Martins, Jaime Moritz Brum, Leandro Tavares Lucato, Claudia da Costa Leite

Arq Neuropsiquiatr· August 2014

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Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.
Monique Van Scherpenzeel, Sharita Timal, Daisy Rymen, Alexander Hoischen, Manfred Wuhrer, Jaime Moritz Brum

Brain· April 2014

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Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.
Aikaterini Dimopoulou, Björn Fischer, Thatjana Gardeitchik, Phillipe Schröter, Hülya Kayserili, Jaime Moritz Brum

Mol Genet Metab· November 2013

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Diagnosing lysosomal storage diseases in a Brazilian non-newborn population by tandem mass spectrometry.
Guilherme Dotto Brand, Helainy Cristina de Matos, Gabriel Costa Nunes da Cruz, Nilza do Carmo Fontes, Marcelo Buzzi, Jaime Moritz Brum

Clinics (Sao Paulo)· November 2013

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Analysis of novel ARG1 mutations causing hyperargininemia and correlation with arginase I activity in erythrocytes.
Daniel Rocha Carvalho, Guilherme Dotto Brand, Jaime Moritz Brum, Reinaldo Issao Takata, Carlos Eduardo Speck-Martins

Gene· November 2012

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Clinical features and neurologic progression of hyperargininemia.
Daniel R Carvalho, Jaime M Brum, Carlos E Speck-Martins, Fabrício D Ventura, Mônica M M Navarro

Pediatr Neurol· June 2012

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Guidelines for the management of mucopolysaccharidosis type I.
Ana Maria Martins, Ana Paula Dualibi, Denise Norato, Edna Tiemi Takata, Emerson S Santos, Jaime Moritz Brum

J Pediatr· October 2009

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Congenital disorder of glycosylation type Ia: a non-progressive encephalopathy associated with multisystemic involvement.
Jaime Moritz Brum, Isabela Maria Pinto de Oliveira Rizzo, Walquiria Domingues de Mello, Carlos Eduardo Speck-Martins

Arq Neuropsiquiatr· September 2008

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Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients.
Ursula Matte, Gouri Yogalingam, Doug Brooks, Sandra Leistner, Ida Schwartz, Jaime M Brum

Mol Genet Metab· January 2003

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