Kishnani PS - Search Results

1

Glucose tetrasaccharide as a biomarker for monitoring the therapeutic response to enzyme replacement therapy for Pompe disease.

An Y, Young SP, Kishnani PS, Millington DS, Amalfitano A, Corz D, Chen YT. An Y, et al. Among authors: kishnani ps. Mol Genet Metab. 2005 Aug;85(4):247-54. doi: 10.1016/j.ymgme.2005.03.010. Mol Genet Metab. 2005. PMID: 15886040

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

Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.

Bao Y, Kishnani P, Wu JY, Chen YT. Bao Y, et al. J Clin Invest. 1996 Feb 15;97(4):941-8. doi: 10.1172/JCI118517. J Clin Invest. 1996. PMID: 8613547 Free PMC article.

4

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.

5

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

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

Isolation and nucleotide sequence of canine glucose-6-phosphatase mRNA: identification of mutation in puppies with glycogen storage disease type Ia.

Kishnani PS, Bao Y, Wu JY, Brix AE, Lin JL, Chen YT. Kishnani PS, et al. Biochem Mol Med. 1997 Aug;61(2):168-77. doi: 10.1006/bmme.1997.2600. Biochem Mol Med. 1997. PMID: 9259982

8

Dubowitz syndrome: a defect in the cholesterol biosynthetic pathway?

Ahmad A, Amalfitano A, Chen YT, Kishnani PS, Miller C, Kelley R. Ahmad A, et al. Among authors: kishnani ps. Am J Med Genet. 1999 Oct 29;86(5):503-4. Am J Med Genet. 1999. PMID: 10508998 No abstract available.

9

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

Kishnani PS, Boney A, Chen YT. Kishnani PS, et al. J Inherit Metab Dis. 1999 Oct;22(7):795-801. doi: 10.1023/a:1005549823146. J Inherit Metab Dis. 1999. PMID: 10518279

10

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

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