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Glycogen storage disease type III diagnosis and management guidelines.
Kishnani PS, Austin SL, Arn P, Bali DS, Boney A, Case LE, Chung WK, Desai DM, El-Gharbawy A, Haller R, Smit GP, Smith AD, Hobson-Webb LD, Wechsler SB, Weinstein DA, Watson MS; ACMG. Kishnani PS, et al. Among authors: boney a. Genet Med. 2010 Jul;12(7):446-63. doi: 10.1097/GIM.0b013e3181e655b6. Genet Med. 2010. PMID: 20631546 Free article.
Hypovitaminosis D in glycogen storage disease type I.
Banugaria SG, Austin SL, Boney A, Weber TJ, Kishnani PS. Banugaria SG, et al. Among authors: boney a. Mol Genet Metab. 2010 Apr;99(4):434-7. doi: 10.1016/j.ymgme.2009.12.012. Epub 2009 Dec 21. Mol Genet Metab. 2010. PMID: 20060350
Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics.
Kishnani PS, Austin SL, Abdenur JE, Arn P, Bali DS, Boney A, Chung WK, Dagli AI, Dale D, Koeberl D, Somers MJ, Wechsler SB, Weinstein DA, Wolfsdorf JI, Watson MS; American College of Medical Genetics and Genomics. Kishnani PS, et al. Among authors: boney a. Genet Med. 2014 Nov;16(11):e1. doi: 10.1038/gim.2014.128. Genet Med. 2014. PMID: 25356975 Free article.
Hepatocellular carcinoma in glycogen storage disease type Ia: a case series.
Franco LM, Krishnamurthy V, Bali D, Weinstein DA, Arn P, Clary B, Boney A, Sullivan J, Frush DP, Chen YT, Kishnani PS. Franco LM, et al. Among authors: boney a. J Inherit Metab Dis. 2005;28(2):153-62. doi: 10.1007/s10545-005-7500-2. J Inherit Metab Dis. 2005. PMID: 15877204
Fractures in children with Pompe disease: a potential long-term complication.
Case LE, Hanna R, Frush DP, Krishnamurthy V, DeArmey S, Mackey J, Boney A, Morgan C, Corzo D, Bouchard S, Weber TJ, Chen YT, Kishnani PS. Case LE, et al. Among authors: boney a. Pediatr Radiol. 2007 May;37(5):437-45. doi: 10.1007/s00247-007-0428-y. Epub 2007 Mar 7. Pediatr Radiol. 2007. PMID: 17342521
22 results