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Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Kishnani PS, Goldstein J, Austin SL, Arn P, Bachrach B, Bali DS, Chung WK, El-Gharbawy A, Brown LM, Kahler S, Pendyal S, Ross KM, Tsilianidis L, Weinstein DA, Watson MS; ACMG Work Group on Diagnosis and Management of Glycogen Storage Diseases Type VI and IX. Kishnani PS, et al. Among authors: kahler s. Genet Med. 2019 Apr;21(4):772-789. doi: 10.1038/s41436-018-0364-2. Epub 2019 Jan 19. Genet Med. 2019. PMID: 30659246 Free article.
Benzoate therapy and carnitine deficiency in non-ketotic hyperglycinemia.
Van Hove JL, Kishnani P, Muenzer J, Wenstrup RJ, Summar ML, Brummond MR, Lachiewicz AM, Millington DS, Kahler SG. Van Hove JL, et al. Among authors: kahler sg. Am J Med Genet. 1995 Dec 4;59(4):444-53. doi: 10.1002/ajmg.1320590410. Am J Med Genet. 1995. PMID: 8585564
Brain abscess in glycogen storage disease type Ib.
Park HK, Kahler SG, Chen YT. Park HK, et al. Among authors: kahler sg. Acta Paediatr Scand. 1991 Nov;80(11):1103-6. doi: 10.1111/j.1651-2227.1991.tb11793.x. Acta Paediatr Scand. 1991. PMID: 1750349
Hepatic storage of glycogen in Niemann-Pick disease type B.
Smith WE, Kahler SG, Frush DP, Milov DE, Gottfried MR, Chen YT. Smith WE, et al. Among authors: kahler sg. J Pediatr. 2001 Jun;138(6):946-8. doi: 10.1067/mpd.2001.113103. J Pediatr. 2001. PMID: 11391349
Fetal biometry in the Brachmann-de Lange syndrome.
Kliewer MA, Kahler SG, Hertzberg BS, Bowie JD. Kliewer MA, et al. Among authors: kahler sg. Am J Med Genet. 1993 Nov 15;47(7):1035-41. doi: 10.1002/ajmg.1320470721. Am J Med Genet. 1993. PMID: 8291520
246 results