Kishnani PS - Search Results

1

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

2

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.

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

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.

6

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

7

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.

8

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

9

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. Kishnani PS, et al. Vet Pathol. 2001 Jan;38(1):83-91. doi: 10.1354/vp.38-1-83. Vet Pathol. 2001. PMID: 11199168

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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