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Year Number of Results
1998 1
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Page 1
Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.
Coughlin CR 2nd, Tseng LA, Abdenur JE, Ashmore C, Boemer F, Bok LA, Boyer M, Buhas D, Clayton PT, Das A, Dekker H, Evangeliou A, Feillet F, Footitt EJ, Gospe SM Jr, Hartmann H, Kara M, Kristensen E, Lee J, Lilje R, Longo N, Lunsing RJ, Mills P, Papadopoulou MT, Pearl PL, Piazzon F, Plecko B, Saini AG, Santra S, Sjarif DR, Stockler-Ipsiroglu S, Striano P, Van Hove JLK, Verhoeven-Duif NM, Wijburg FA, Zuberi SM, van Karnebeek CDM. Coughlin CR 2nd, et al. Among authors: sjarif dr. J Inherit Metab Dis. 2021 Jan;44(1):178-192. doi: 10.1002/jimd.12332. Epub 2020 Dec 1. J Inherit Metab Dis. 2021. PMID: 33200442
Gaucher Disease: A First Reported Adult Case in Indonesia.
Ahani AR, Irawan C, Harahap AS, Yuliarti K, Ham MF, Izzaty FN, Sjarif DR. Ahani AR, et al. Among authors: sjarif dr. Acta Med Indones. 2024 Jan;56(1):69-75. Acta Med Indones. 2024. PMID: 38561877 Free article.
Current information and Asian perspectives on long-chain polyunsaturated fatty acids in pregnancy, lactation, and infancy: systematic review and practice recommendations from an early nutrition academy workshop.
Koletzko B, Boey CC, Campoy C, Carlson SE, Chang N, Guillermo-Tuazon MA, Joshi S, Prell C, Quak SH, Sjarif DR, Su Y, Supapannachart S, Yamashiro Y, Osendarp SJ. Koletzko B, et al. Among authors: sjarif dr. Ann Nutr Metab. 2014;65(1):49-80. doi: 10.1159/000365767. Epub 2014 Sep 16. Ann Nutr Metab. 2014. PMID: 25227906 Free article.
Genetics and genomic medicine in Indonesia.
Ariani Y, Soeharso P, Sjarif DR. Ariani Y, et al. Among authors: sjarif dr. Mol Genet Genomic Med. 2017 Mar 29;5(2):103-109. doi: 10.1002/mgg3.284. eCollection 2017 Mar. Mol Genet Genomic Med. 2017. PMID: 28361095 Free PMC article.
Isolated glycerol kinase deficiency and Fanconi anemia.
Sjarif DR, Révész T, de Koning TJ, Duran M, Beemer FA, Poll-The BT. Sjarif DR, et al. Am J Med Genet. 2001 Mar 1;99(2):159-60. doi: 10.1002/1096-8628(2000)9999:999<00::aid-ajmg1137>3.0.co;2-4. Am J Med Genet. 2001. PMID: 11241478 No abstract available.
21 results