Diagnosis and phenotypic assessment of trimethylaminuria, and its treatment with riboflavin: <sup>1</sup>H NMR spectroscopy and genetic testing.

Bouchemal, Nadia; Ouss, Lisa; Brassier, Anaïs; Barbier, Valérie; Gobin, Stéphanie; Hubert, Laurence; de Lonlay, Pascale; Le Moyec, Laurence

Diagnosis and phenotypic assessment of trimethylaminuria, and its treatment with riboflavin: ¹H NMR spectroscopy and genetic testing.

Bouchemal, Nadia; Ouss, Lisa; Brassier, Anaïs; Barbier, Valérie; Gobin, Stéphanie; Hubert, Laurence; de Lonlay, Pascale; Le Moyec, Laurence.

Afiliação

Bouchemal N; CSPBAT, UMR 7244, CNRS, Université Paris 13, Sorbonne Paris Cité, Bobigny, France. nadia.bouchemal@univ-paris13.fr.
Ouss L; Reference Centre for Metabolic Diseases, Necker-Enfants Malades Hospital, Imagine Institute, Université Paris-Descartes, APHP, Paris, France.
Brassier A; Service de Pédopsychiatrie, Necker-Enfants Malades Hospital, APHP, Paris, France.
Barbier V; Reference Centre for Metabolic Diseases, Necker-Enfants Malades Hospital, Imagine Institute, Université Paris-Descartes, APHP, Paris, France.
Gobin S; Reference Centre for Metabolic Diseases, Necker-Enfants Malades Hospital, Imagine Institute, Université Paris-Descartes, APHP, Paris, France.
Hubert L; Unité de Génétique moléculaire, Necker-Enfants Malades Hospital, APHP, Paris, France.
de Lonlay P; Reference Centre for Metabolic Diseases, Necker-Enfants Malades Hospital, Imagine Institute, Université Paris-Descartes, APHP, Paris, France.
Le Moyec L; Reference Centre for Metabolic Diseases, Necker-Enfants Malades Hospital, Imagine Institute, Université Paris-Descartes, APHP, Paris, France.

Orphanet J Rare Dis ; 14(1): 222, 2019 09 18.

Article em En | MEDLINE | ID: mdl-31533761

Assuntos

Testes Genéticos/métodos; Espectroscopia de Ressonância Magnética/métodos; Erros Inatos do Metabolismo/diagnóstico por imagem; Erros Inatos do Metabolismo/diagnóstico; Metilaminas/urina; Riboflavina/uso terapêutico; Criança; Pré-Escolar; Humanos; Erros Inatos do Metabolismo/tratamento farmacológico; Erros Inatos do Metabolismo/genética; Oxigenases/genética; Fenótipo

Palavras-chave

FMO3 gene; Olfactory reference syndrome; Proton nuclear magnetic resonance spectroscopy; Trimethylaminuria

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Riboflavina / Espectroscopia de Ressonância Magnética / Testes Genéticos / Erros Inatos do Metabolismo / Metilaminas Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child / Child, preschool / Humans Idioma: En Ano de publicação: 2019 Tipo de documento: Article

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