Kishnani PS - Search Results

1

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. 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.

2

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. Am J Med Genet. 1995 Dec 4;59(4):444-53. doi: 10.1002/ajmg.1320590410. Am J Med Genet. 1995. PMID: 8585564

3

Pulmonary hypertension in glycogen storage disease type I.

Kishnani P, Bengur AR, Chen YT. Kishnani P, et al. J Inherit Metab Dis. 1996;19(2):213-6. doi: 10.1007/BF01799432. J Inherit Metab Dis. 1996. PMID: 8739968 No abstract available.

4

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. McConkie-Rosell A, et al. J Inherit Metab Dis. 1996;19(1):51-8. doi: 10.1007/BF01799348. J Inherit Metab Dis. 1996. PMID: 8830177

5

Hemangioma, supraumbilical midline raphé, and coarctation of the aorta with a right aortic arch: single causal entity?

Kishnani P, Iafolla AK, McConkie-Rosell A, Van Hove JL, Kanter RJ, Kahler SG. Kishnani P, et al. Am J Med Genet. 1995 Oct 23;59(1):44-8. doi: 10.1002/ajmg.1320590110. Am J Med Genet. 1995. PMID: 8849010

6

Double mutant fibrillin-1 (FBN1) allele in a patient with neonatal Marfan syndrome.

Wang M, Kishnani P, Decker-Phillips M, Kahler SG, Chen YT, Godfrey M. Wang M, et al. J Med Genet. 1996 Sep;33(9):760-3. doi: 10.1136/jmg.33.9.760. J Med Genet. 1996. PMID: 8880577 Free PMC article.

7

Acute pancreatitis in an infant with lactic acidosis and a mutation at nucleotide 3243 in the mitochondrial DNA tRNALeu(UUR) gene.

Kishnani PS, Van Hove JL, Shoffner JS, Kaufman A, Bossen EH, Kahler SG. Kishnani PS, et al. Eur J Pediatr. 1996 Oct;155(10):898-903. doi: 10.1007/BF02282842. Eur J Pediatr. 1996. PMID: 8891562

8

Treatment of pyruvate carboxylase deficiency with high doses of citrate and aspartate.

Ahmad A, Kahler SG, Kishnani PS, Artigas-Lopez M, Pappu AS, Steiner R, Millington DS, Van Hove JL. Ahmad A, et al. Among authors: kishnani ps. Am J Med Genet. 1999 Dec 3;87(4):331-8. doi: 10.1002/(sici)1096-8628(19991203)87:4<331::aid-ajmg10>3.0.co;2-k. Am J Med Genet. 1999. PMID: 10588840

9

Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage disease.

Shaiu WL, Kishnani PS, Shen J, Liu HM, Chen YT. Shaiu WL, et al. Among authors: kishnani ps. Mol Genet Metab. 2000 Jan;69(1):16-23. doi: 10.1006/mgme.1999.2953. Mol Genet Metab. 2000. PMID: 10655153

10

Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial.

Amalfitano A, Bengur AR, Morse RP, Majure JM, Case LE, Veerling DL, Mackey J, Kishnani P, Smith W, McVie-Wylie A, Sullivan JA, Hoganson GE, Phillips JA 3rd, Schaefer GB, Charrow J, Ware RE, Bossen EH, Chen YT. Amalfitano A, et al. Genet Med. 2001 Mar-Apr;3(2):132-8. Genet Med. 2001. PMID: 11286229 Free article. Clinical Trial.

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