Brown RM - Search Results

1

Lactic acidosis and developmental delay due to deficiency of E3 binding protein (protein X) of the pyruvate dehydrogenase complex.

Ramadan DG, Head RA, Al-Tawari A, Habeeb Y, Zaki M, Al-Ruqum F, Besley GT, Wraith JE, Brown RM, Brown GK. Ramadan DG, et al. Among authors: brown rm, brown gk. J Inherit Metab Dis. 2004;27(4):477-85. doi: 10.1023/B:BOLI.0000037336.91549.44. J Inherit Metab Dis. 2004. PMID: 15303005

2

Pyruvate dehydrogenase E3 binding protein deficiency.

Brown RM, Head RA, Brown GK. Brown RM, et al. Among authors: brown gk. Hum Genet. 2002 Feb;110(2):187-91. doi: 10.1007/s00439-001-0665-3. Epub 2002 Jan 22. Hum Genet. 2002. PMID: 11935326

3

Diagnostic difficulties with common SURF1 mutations in patients with cytochrome oxidase-deficient Leigh syndrome.

Head RA, Brown RM, Brown GK. Head RA, et al. Among authors: brown rm, brown gk. J Inherit Metab Dis. 2004;27(1):57-65. doi: 10.1023/B:BOLI.0000016622.05609.b8. J Inherit Metab Dis. 2004. PMID: 14970746

4

Pyruvate dehydrogenase E3 binding protein (protein X) deficiency.

Brown RM, Head RA, Morris AA, Raiman JA, Walter JH, Whitehouse WP, Brown GK. Brown RM, et al. Among authors: brown gk. Dev Med Child Neurol. 2006 Sep;48(9):756-60. doi: 10.1017/S0012162206001617. Dev Med Child Neurol. 2006. PMID: 16904023 Free article.

5

Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency.

Brown RM, Head RA, Boubriak II, Leonard JV, Thomas NH, Brown GK. Brown RM, et al. Among authors: brown gk. Hum Genet. 2004 Jul;115(2):123-7. doi: 10.1007/s00439-004-1124-8. Epub 2004 May 11. Hum Genet. 2004. PMID: 15138885

6

Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiency.

Head RA, Brown RM, Zolkipli Z, Shahdadpuri R, King MD, Clayton PT, Brown GK. Head RA, et al. Among authors: brown rm, brown gk. Ann Neurol. 2005 Aug;58(2):234-41. doi: 10.1002/ana.20550. Ann Neurol. 2005. PMID: 16049940

7

Somatic mosaicism for a PDHA1 mutation in a female with pyruvate dehydrogenase deficiency.

Ridout CK, Brown RM, Walter JH, Brown GK. Ridout CK, et al. Among authors: brown rm, brown gk. Hum Genet. 2008 Sep;124(2):187-93. doi: 10.1007/s00439-008-0538-0. Epub 2008 Aug 17. Hum Genet. 2008. PMID: 18709504

8

X-linked pyruvate dehydrogenase E1 alpha subunit deficiency in heterozygous females: variable manifestation of the same mutation.

Dahl HH, Hansen LL, Brown RM, Danks DM, Rogers JG, Brown GK. Dahl HH, et al. Among authors: brown rm, brown gk. J Inherit Metab Dis. 1992;15(6):835-47. doi: 10.1007/BF01800219. J Inherit Metab Dis. 1992. PMID: 1293379

9

Prenatal diagnosis of pyruvate dehydrogenase E1 alpha subunit deficiency.

Brown RM, Brown GK. Brown RM, et al. Among authors: brown gk. Prenat Diagn. 1994 Jun;14(6):435-41. doi: 10.1002/pd.1970140604. Prenat Diagn. 1994. PMID: 7937579

10

Clinical diversity of pyruvate dehydrogenase deficiency.

Cross JH, Connelly A, Gadian DG, Kendall BE, Brown GK, Brown RM, Leonard JV. Cross JH, et al. Among authors: brown rm, brown gk. Pediatr Neurol. 1994 Jun;10(4):276-83. doi: 10.1016/0887-8994(94)90122-8. Pediatr Neurol. 1994. PMID: 8068153

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