Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum.

Donti, Taraka R; Cappuccio, Gerarda; Hubert, Leroy; Neira, Juanita; Atwal, Paldeep S; Miller, Marcus J; Cardon, Aaron L; Sutton, V Reid; Porter, Brenda E; Baumer, Fiona M; Wangler, Michael F; Sun, Qin; Emrick, Lisa T; Elsea, Sarah H

Donti, Taraka R; Cappuccio, Gerarda; Hubert, Leroy; Neira, Juanita; Atwal, Paldeep S; Miller, Marcus J; Cardon, Aaron L; Sutton, V Reid; Porter, Brenda E; Baumer, Fiona M; Wangler, Michael F; Sun, Qin; Emrick, Lisa T; Elsea, Sarah H.

Afiliación

Donti TR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States.
Cappuccio G; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States; Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, Naples, Italy.
Hubert L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States.
Neira J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States.
Atwal PS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States.
Miller MJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States.
Cardon AL; Section of Pediatric Neurology and Neuroscience, Baylor College of Medicine, Houston, TX, United States.
Sutton VR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States.
Porter BE; Stanford Medical School, Stanford, CA, United States.
Baumer FM; Stanford Medical School, Stanford, CA, United States.
Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States.
Sun Q; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States.
Emrick LT; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States; Section of Pediatric Neurology and Neuroscience, Baylor College of Medicine, Houston, TX, United States.
Elsea SH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States.

Mol Genet Metab Rep ; 8: 61-6, 2016 Sep.

Article en En | MEDLINE | ID: mdl-27504266

Palabras clave

ADSL deficiency; ADSL, adenylosuccinate lyase; AICAR, aminoimidazole carboxamide ribotide; Global MAPSSM, Global Metabolomic Assisted Pathway Screen; IEM, inborn errors of metabolism; Intellectual disability; Metabolomic profiling; SAICAR, succinylaminoimidazole carboxamide ribotide; Succinyladenosine

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Texto completo: 1 Banco de datos: MEDLINE Tipo de estudio: Diagnostic_studies Idioma: En Revista: Mol Genet Metab Rep Año: 2016 Tipo del documento: Article País de afiliación: Estados Unidos

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