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Items: 17

1.

Relationships among Dietary Intakes and Persistent Gastrointestinal Symptoms in Patients Receiving Enzyme Treatment for Genetic Sucrase-Isomaltase Deficiency.

Boney A, Elser HE, Silver HJ.

J Acad Nutr Diet. 2018 Mar;118(3):440-447. doi: 10.1016/j.jand.2017.11.005. Epub 2018 Jan 6.

2.

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.

Genet Med. 2014 Nov;16(11):e1.

PMID:
25356975
3.

Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene.

Bali DS, Goldstein JL, Fredrickson K, Rehder C, Boney A, Austin S, Weinstein DA, Lutz R, Boneh A, Kishnani PS.

Mol Genet Metab. 2014 Mar;111(3):309-313. doi: 10.1016/j.ymgme.2013.12.008. Epub 2013 Dec 19.

4.

Follow-up of a child with pyruvate dehydrogenase deficiency on a less restrictive ketogenic diet.

El-Gharbawy AH, Boney A, Young SP, Kishnani PS.

Mol Genet Metab. 2011 Feb;102(2):214-5. doi: 10.1016/j.ymgme.2010.11.001. Epub 2010 Nov 9.

PMID:
21130013
5.

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.

Genet Med. 2010 Jul;12(7):446-63. doi: 10.1097/GIM.0b013e3181e655b6. Erratum in: Genet Med. 2010 Sep;12(9):566.

PMID:
20631546
6.

Hypovitaminosis D in glycogen storage disease type I.

Banugaria SG, Austin SL, Boney A, Weber TJ, Kishnani PS.

Mol Genet Metab. 2010 Apr;99(4):434-7. doi: 10.1016/j.ymgme.2009.12.012. Epub 2009 Dec 21.

PMID:
20060350
7.
8.

Three successful pregnancies through dietary management of fructose-1,6-bisphosphatase deficiency.

Krishnamurthy V, Eschrich K, Boney A, Sullivan J, McDonald M, Kishnani PS, Koeberl DD.

J Inherit Metab Dis. 2007 Oct;30(5):819. Epub 2007 Aug 20.

PMID:
17705024
9.

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.

Pediatr Radiol. 2007 May;37(5):437-45. Epub 2007 Mar 7.

PMID:
17342521
10.

Glycogen storage disease type III-hepatocellular carcinoma a long-term complication?

Demo E, Frush D, Gottfried M, Koepke J, Boney A, Bali D, Chen YT, Kishnani PS.

J Hepatol. 2007 Mar;46(3):492-8. Epub 2006 Nov 9. Review.

11.

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.

J Inherit Metab Dis. 2005;28(2):153-62.

PMID:
15877204
12.

Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening.

Koeberl DD, Millington DS, Smith WE, Weavil SD, Muenzer J, McCandless SE, Kishnani PS, McDonald MT, Chaing S, Boney A, Moore E, Frazier DM.

J Inherit Metab Dis. 2003;26(1):25-35.

PMID:
12872837
13.

Delivery of glucose-6-phosphatase in a canine model for glycogen storage disease, type Ia, with adeno-associated virus (AAV) vectors.

Beaty RM, Jackson M, Peterson D, Bird A, Brown T, Benjamin DK Jr, Juopperi T, Kishnani P, Boney A, Chen YT, Koeberl DD.

Gene Ther. 2002 Aug;9(15):1015-22.

14.

Frequency of celiac disease in individuals with Down syndrome in the United States.

Mackey J, Treem WR, Worley G, Boney A, Hart P, Kishnani PS.

Clin Pediatr (Phila). 2001 May;40(5):249-52.

15.

Canine model and genomic structural organization of glycogen storage disease type Ia (GSD Ia).

Kishnani PS, Faulkner E, VanCamp S, Jackson M, Brown T, Boney A, Koeberl D, Chen YT.

Vet Pathol. 2001 Jan;38(1):83-91.

PMID:
11199168
16.

Nutritional deficiencies in a patient with glycogen storage disease type Ib.

Kishnani PS, Boney A, Chen YT.

J Inherit Metab Dis. 1999 Oct;22(7):795-801.

PMID:
10518279
17.

Clinical and laboratory findings in four patients with the non-progressive hepatic form of type IV glycogen storage disease.

McConkie-Rosell A, Wilson C, Piccoli DA, Boyle J, DeClue T, Kishnani P, Shen JJ, Boney A, Brown B, Chen YT.

J Inherit Metab Dis. 1996;19(1):51-8.

PMID:
8830177

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