The pyruvate kinase (PK) to hexokinase enzyme activity ratio and erythrocyte PK protein level in the diagnosis and phenotype of PK deficiency.

Al-Samkari, Hanny; Addonizio, Kathryn; Glader, Bertil; Morton, D Holmes; Chonat, Satheesh; Thompson, Alexis A; Kuo, Kevin H M; Ravindranath, Yaddanapudi; Wang, Heng; Rothman, Jennifer A; Kwiatkowski, Janet L; Kung, Charles; Kosinski, Penelope A; Al-Sayegh, Hasan; London, Wendy B; Grace, Rachael F

The pyruvate kinase (PK) to hexokinase enzyme activity ratio and erythrocyte PK protein level in the diagnosis and phenotype of PK deficiency.

Al-Samkari, Hanny; Addonizio, Kathryn; Glader, Bertil; Morton, D Holmes; Chonat, Satheesh; Thompson, Alexis A; Kuo, Kevin H M; Ravindranath, Yaddanapudi; Wang, Heng; Rothman, Jennifer A; Kwiatkowski, Janet L; Kung, Charles; Kosinski, Penelope A; Al-Sayegh, Hasan; London, Wendy B; Grace, Rachael F.

Afiliação

Al-Samkari H; Division of Hematology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Addonizio K; Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Harvard Medical School, Boston, MA, USA.
Glader B; Lucile Packard Children's Hospital, Stanford University, Palo Alto, CA, USA.
Morton DH; Central Pennsylvania Clinic for Special Children & Adults, Belleville, PA, USA.
Chonat S; Lancaster General Hospital, Lancaster, PA, USA.
Thompson AA; Department of Pediatrics, Emory University School of Medicine, Atlanta, GA, USA.
Kuo KHM; Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta, Atlanta, GA, USA.
Ravindranath Y; Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.
Wang H; University of Toronto, University Health Network, Toronto, ON, Canada.
Rothman JA; Children's Hospital of Michigan, Wayne State University School of Medicine, Detroit, MI, USA.
Kwiatkowski JL; DDC Clinic for Special Needs Children, Middlefield, OH, USA.
Kung C; Duke University Medical Center, Durham, NC, USA.
Kosinski PA; Children's Hospital of Pennsylvania and Perelman School of Medicine of the University of Pennsylvania, Philadelphia, PA, USA.
Al-Sayegh H; Agios Pharmaceuticals, Cambridge, MA, USA.
London WB; Agios Pharmaceuticals, Cambridge, MA, USA.
Grace RF; Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Harvard Medical School, Boston, MA, USA.

Br J Haematol ; 192(6): 1092-1096, 2021 03.

Article em En | MEDLINE | ID: mdl-32463523

Assuntos

Anemia Hemolítica Congênita não Esferocítica/sangue; Eritrócitos/enzimologia; Hexoquinase/sangue; Piruvato Quinase/sangue; Piruvato Quinase/deficiência; Erros Inatos do Metabolismo dos Piruvatos/sangue; Adolescente; Adulto; Anemia Hemolítica Congênita não Esferocítica/genética; Biomarcadores/sangue; Criança; Pré-Escolar; Feminino; Hexoquinase/genética; Humanos; Lactente; Masculino; Pessoa de Meia-Idade; Piruvato Quinase/genética; Erros Inatos do Metabolismo dos Piruvatos/genética; Índice de Gravidade de Doença

Palavras-chave

enzyme assay; hexokinase; pyruvate kinase; pyruvate kinase deficiency; pyruvate kinase protein

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Piruvato Quinase / Erros Inatos do Metabolismo dos Piruvatos / Eritrócitos / Hexoquinase / Anemia Hemolítica Congênita não Esferocítica Tipo de estudo: Clinical_trials / Diagnostic_studies / Observational_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Br J Haematol Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google