The clinical and biochemical spectrum of human pyruvate dehydrogenase complex deficiency

scientific article published on January 1989

The clinical and biochemical spectrum of human pyruvate dehydrogenase complex deficiency is …
instance of (P31):
review articleQ7318358
scholarly articleQ13442814

External links are
P356DOI10.1111/J.1749-6632.1989.TB15011.X
P698PubMed publication ID2517465

P2093author name stringBrown GK
Brown RM
Dahl HH
Kirby DM
Scholem RD
P2860cites workDisorders of the pyruvate dehydrogenase complexQ39504293
X-linked Leigh's syndromeQ40274723
"Cerebral" lactic acidosis: defects in pyruvate metabolism with profound brain damage and minimal systemic acidosisQ41932603
Neuropathology in cerebral lactic acidosisQ41933108
Immunochemical analysis of normal and mutant forms of human pyruvate dehydrogenaseQ41941623
Variable clinical presentation in patients with defective E1 component of pyruvate dehydrogenase complexQ42512207
Biochemical study in 28 children with lactic acidosis, in relation to Leigh's encephalomyelopathyQ48517707
Lacticacidaemia due to pyruvate dehydrogenase deficiency, with evidence of protein polymorphism in the alpha-subunit of the enzyme.Q52262628
Cloning and sequencing of cDNAs encoding alpha and beta subunits of human pyruvate dehydrogenaseQ24657108
X-chromosome localization of the functional gene for the E1 alpha subunit of the human pyruvate dehydrogenase complexQ34532872
Incomplete X chromosome dosage compensation in chorionic villi of human placentaQ37688669
P407language of work or nameEnglishQ1860
P1104number of pages9
P304page(s)360-368
P577publication date1989-01-01
P1433published inAnnals of the New York Academy of SciencesQ2431664
P1476titleThe clinical and biochemical spectrum of human pyruvate dehydrogenase complex deficiency
P478volume573