Publications by authors named "Jaime Moritz 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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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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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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