Zobrazeno 1 - 3
of 3
pro vyhledávání: '"branched‐chain 2‐ketoacid dehydrogenase"'
Autor:
Jirair K. Bedoyan, Leah Hecht, Shulin Zhang, Stacey Tarrant, Ann Bergin, Didem Demirbas, Edward Yang, Ha Kyung Shin, George J. Grahame, Suzanne D. DeBrosse, Charles L. Hoppel, Douglas S. Kerr, Gerard T. Berry
Publikováno v:
JIMD Reports, Vol 48, Iss 1, Pp 26-35 (2019)
Abstract Congenital lactic acidosis due to pyruvate dehydrogenase phosphatase (PDP) deficiency is very rare. PDP regulates pyruvate dehydrogenase complex (PDC) and defective PDP leads to PDC deficiency. We report a case with functional PDC deficiency
Externí odkaz:
https://doaj.org/article/b59d2924e8ea4aa7970c206f3ceba207
Autor:
Shulin Zhang, George Grahame, Stacey Tarrant, Charles L. Hoppel, Ann M. Bergin, Douglas S. Kerr, Jirair K. Bedoyan, Suzanne D. DeBrosse, Ha Kyung Shin, Leah Hecht, Didem Demirbas, Edward Yang, Gerard T. Berry
Publikováno v:
JIMD Reports
JIMD Reports, Vol 48, Iss 1, Pp 26-35 (2019)
JIMD Reports, Vol 48, Iss 1, Pp 26-35 (2019)
Congenital lactic acidosis due to pyruvate dehydrogenase phosphatase (PDP) deficiency is very rare. PDP regulates pyruvate dehydrogenase complex (PDC) and defective PDP leads to PDC deficiency. We report a case with functional PDC deficiency with low
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81f937cc742f8ecb3aa4ecac70175c05
https://doi.org/10.1002/jmd2.12054
https://doi.org/10.1002/jmd2.12054
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