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Retrospective analysis of 19 patients with 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Prolactin levels inversely correlate with growth.
Manzoni, Francesca; Salvatici, Elisabetta; Burlina, Alberto; Andrews, Ashley; Pasquali, Marzia; Longo, Nicola.
Afiliación
  • Manzoni F; Division of Medical Genetics/Pediatrics, University of Utah, Salt Lake City, UT, USA; Clinical Department of Neuropsychiatry, San Paolo Hospital, University of Milan, Milan, Italy; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, Padua, Italy.
  • Salvatici E; Clinical Department of Pediatrics, San Paolo Hospital, University of Milan, Milan, Italy.
  • Burlina A; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, Padua, Italy.
  • Andrews A; Division of Medical Genetics/Pediatrics, University of Utah, Salt Lake City, UT, USA.
  • Pasquali M; Division of Medical Genetics/Pediatrics, University of Utah, Salt Lake City, UT, USA; ARUP Laboratories, Salt Lake City, UT, USA; Department of Pathology, University of Utah, Salt Lake City, UT, USA.
  • Longo N; Division of Medical Genetics/Pediatrics, University of Utah, Salt Lake City, UT, USA; ARUP Laboratories, Salt Lake City, UT, USA; Department of Pathology, University of Utah, Salt Lake City, UT, USA.. Electronic address: Nicola.Longo@hsc.utah.edu.
Mol Genet Metab ; 131(4): 380-389, 2020 12.
Article en En | MEDLINE | ID: mdl-33234470
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenilcetonurias / Prolactina / Liasas de Fósforo-Oxígeno Tipo de estudio: Prognostic_studies / Qualitative_research / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2020 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenilcetonurias / Prolactina / Liasas de Fósforo-Oxígeno Tipo de estudio: Prognostic_studies / Qualitative_research / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2020 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Estados Unidos