Ding JH - Search Results

1

Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease.

Bijvoet AG, van de Kamp EH, Kroos MA, Ding JH, Yang BZ, Visser P, Bakker CE, Verbeet MP, Oostra BA, Reuser AJ, van der Ploeg AT. Bijvoet AG, et al. Among authors: ding jh. Hum Mol Genet. 1998 Jan;7(1):53-62. doi: 10.1093/hmg/7.1.53. Hum Mol Genet. 1998. PMID: 9384603 Free article.

2

Definitive prenatal diagnosis for type III glycogen storage disease.

Yang BZ, Ding JH, Brown BI, Chen YT. Yang BZ, et al. Among authors: ding jh. Am J Hum Genet. 1990 Oct;47(4):735-9. Am J Hum Genet. 1990. PMID: 2220811 Free PMC article.

3

Type III glycogen storage disease: an adult case with mild disease but complete absence of debrancher protein.

Yang BZ, Stewart C, Ding JH, Chen YT. Yang BZ, et al. Among authors: ding jh. Neuromuscul Disord. 1991;1(3):173-6. doi: 10.1016/0960-8966(91)90021-j. Neuromuscul Disord. 1991. PMID: 1822791

4

Identification of a new mutation in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.

Ding JH, Yang BZ, Bao Y, Roe CR, Chen YT. Ding JH, et al. Am J Hum Genet. 1992 Jan;50(1):229-33. Am J Hum Genet. 1992. PMID: 1729890 Free PMC article.

5

A novel mutation identified in carnitine palmitoyltransferase II deficiency.

Yang BZ, Ding JH, Roe D, Dewese T, Day DW, Roe CR. Yang BZ, et al. Among authors: ding jh. Mol Genet Metab. 1998 Feb;63(2):110-5. doi: 10.1006/mgme.1997.2656. Mol Genet Metab. 1998. PMID: 9562964

6

Molecular cloning and nucleotide sequence of cDNA encoding human muscle glycogen debranching enzyme.

Yang BZ, Ding JH, Enghild JJ, Bao Y, Chen YT. Yang BZ, et al. Among authors: ding jh. J Biol Chem. 1992 May 5;267(13):9294-9. J Biol Chem. 1992. PMID: 1374391 Free article.

7

Identification of a novel mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency.

Yang BZ, Ding JH, Zhou C, Dimachkie MM, Sweetman L, Dasouki MJ, Wilkinson J, Roe CR. Yang BZ, et al. Among authors: ding jh. Mol Genet Metab. 2000 Mar;69(3):259-62. doi: 10.1006/mgme.2000.2978. Mol Genet Metab. 2000. PMID: 10767181

8

Carnitine/acylcarnitine translocase deficiency (neonatal phenotype): successful prenatal and postmortem diagnosis associated with a novel mutation in a single family.

Yang BZ, Mallory JM, Roe DS, Brivet M, Strobel GD, Jones KM, Ding JH, Roe CR. Yang BZ, et al. Among authors: ding jh. Mol Genet Metab. 2001 May;73(1):64-70. doi: 10.1006/mgme.2001.3162. Mol Genet Metab. 2001. PMID: 11350184

9

Improved detection of the G1528C mutation in LCHAD deficiency.

Ding JH, Yang BZ, Nada MA, Roe CR. Ding JH, et al. Biochem Mol Med. 1996 Jun;58(1):46-51. doi: 10.1006/bmme.1996.0031. Biochem Mol Med. 1996. PMID: 8809345

10

Identification of four novel mutations in patients with carnitine palmitoyltransferase II (CPT II) deficiency.

Yang BZ, Ding JH, Dewese T, Roe D, He G, Wilkinson J, Day DW, Demaugre F, Rabier D, Brivet M, Roe C. Yang BZ, et al. Among authors: ding jh. Mol Genet Metab. 1998 Aug;64(4):229-36. doi: 10.1006/mgme.1998.2711. Mol Genet Metab. 1998. PMID: 9758712

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