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A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing.
D'Gama, Alissa M; Brucker, William J; Zhang, Tian; Gubbels, Cynthia S; Ferdinandusse, Sacha; Shi, Jiahai; Grant, Patricia Ellen; VanNoy, Grace; Genetti, Casie A; Juusola, Jane; Yu, Timothy W; Kritzer, Amy; Agrawal, Pankaj B.
  • D'Gama AM; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Brucker WJ; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.
  • Zhang T; The Broad Institute of MIT and Harvard, Cambridge, Massachusetts.
  • Gubbels CS; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Ferdinandusse S; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Shi J; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.
  • Grant PE; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • VanNoy G; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.
  • Genetti CA; The Broad Institute of MIT and Harvard, Cambridge, Massachusetts.
  • Juusola J; Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.
  • Yu TW; Department of Biomedical Sciences, City University of Hong Kong, Kowloon, Hong Kong.
  • Kritzer A; Division of Newborn Medicine, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Agrawal PB; Department of Radiology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Am J Med Genet A ; 182(4): 780-784, 2020 04.
Article en En | MEDLINE | ID: mdl-32022391
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Tioléster Hidrolasas / Anomalías Múltiples / Errores Innatos del Metabolismo de los Aminoácidos / Mutación Tipo de estudio: Diagnostic_studies Límite: Adult / Female / Humans / Newborn Idioma: En Año: 2020 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Tioléster Hidrolasas / Anomalías Múltiples / Errores Innatos del Metabolismo de los Aminoácidos / Mutación Tipo de estudio: Diagnostic_studies Límite: Adult / Female / Humans / Newborn Idioma: En Año: 2020 Tipo del documento: Article