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Novel nonsense mutation in the hypoxanthine guanine phosphoribosyltransferase gene and nonrandom X-inactivation causing Lesch-Nyhan syndrome in a female patient.
Hum Mutat. 1996;7(1):52-8. doi: 10.1002/(SICI)1098-1004(1996)7:1<52::AID-HUMU7>3.0.CO;2-R.
Hum Mutat. 1996.
PMID: 8664901
4-Hydroxybutyric aciduria.
Rahbeeni Z, Ozand PT, Rashed M, Gascon GG, al Nasser M, al Odaib A, Amoudi M, Nester M, al Garawi S, Brismar J.
Rahbeeni Z, et al. Among authors: al garawi s.
Brain Dev. 1994 Nov;16 Suppl:64-71. doi: 10.1016/0387-7604(94)90098-1.
Brain Dev. 1994.
PMID: 7726383
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Unusual presentations of propionic acidemia.
Ozand PT, Rashed M, Gascon GG, Youssef NG, Harfi H, Rahbeeni Z, al Garawi S, al Aqeel A.
Ozand PT, et al. Among authors: al garawi s.
Brain Dev. 1994 Nov;16 Suppl:46-57. doi: 10.1016/0387-7604(94)90096-5.
Brain Dev. 1994.
PMID: 7726381
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A new patient with alpha-ketoglutaric aciduria and progressive extrapyramidal tract disease.
al Aqeel A, Rashed M, Ozand PT, Gascon GG, Rahbeeni Z, al Garawi S, al Odaib A, Brismar J.
al Aqeel A, et al. Among authors: al garawi s.
Brain Dev. 1994 Nov;16 Suppl:33-7. doi: 10.1016/0387-7604(94)90094-9.
Brain Dev. 1994.
PMID: 7726379
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Glutaric aciduria yype 1: First reported cases in three Saudi patients.
Coates R, Rashed M, Rahbeeni Z, Al-Garawi S, Al-Odaib AN, Sakati N, Gascon G, Worthen H, Ozand PT.
Coates R, et al. Among authors: al garawi s.
Ann Saudi Med. 1994 Jul;14(4):316-21. doi: 10.5144/0256-4947.1994.316.
Ann Saudi Med. 1994.
PMID: 17586927
Free PMC article.
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