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M M Lusk

Explore the profile of M M Lusk including associated specialties, affiliations and a list of published articles. Areas
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Articles 6
Citations 74
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Recent Articles
1.
Wexler I, Kerr D, Du Y, Kaung M, STEPHENSON W, Lusk M, et al.
Pediatr Res . 1998 May; 43(5):579-84. PMID: 9585002
Pyruvate carboxylase (PC) is a biotinylated mitochondrial enzyme that catalyzes the conversion of pyruvate to oxaloacetate. Children with inborn errors of PC metabolism have lactic acidosis, hypoglycemia, and mental retardation....
2.
Tripatara A, Kerr D, Lusk M, Kolli M, Tan J, Patel M
Hum Mutat . 1996 Jan; 8(2):180-2. PMID: 8844217
Three novel mutations in the coding region of E1 alpha gene were found in three PDC-deficient male patients, including a missense mutation (M181V), a 3 bp deletion (AGA, corresponding to...
3.
Hemalatha S, Kerr D, Wexler I, Lusk M, Kaung M, Du Y, et al.
Hum Mol Genet . 1995 Feb; 4(2):315-8. PMID: 7757088
No abstract available.
4.
Wexler I, Kerr D, Ho L, Lusk M, Pepin R, Javed A, et al.
Proc Natl Acad Sci U S A . 1988 Oct; 85(19):7336-40. PMID: 3140238
Deficiency of pyruvate dehydrogenase [pyruvate:lipoamide 2-oxidoreductase (decarboxylating and acceptor-acetylating), EC 1.2.4.1], the first component of the pyruvate dehydrogenase complex, is associated with lactic acidosis and central nervous system dysfunction. Using...
5.
Kerr D, Berry S, Lusk M, Ho L, Patel M
Pediatr Res . 1988 Jul; 24(1):95-100. PMID: 3137520
Pyruvate dehydrogenase complex (PDC) deficiency usually has been detected by decreased activity in cultured skin fibroblasts. We investigated two brothers in whom PDC activity was less than 10% of controls...
6.
Kerr D, Ho L, Berlin C, LaNoue K, Towfighi J, Hoppel C, et al.
Pediatr Res . 1987 Sep; 22(3):312-8. PMID: 3116495
An infant with lactic acidosis and developmental delay had neuropathological changes consistent with Leigh's necrotizing encephalomyelopathy. Total pyruvate dehydrogenase complex (PDC) activity was low relative to controls in lymphocytes (0.2...