1883197 4112371 1301196 8318992 4221470 2170400 8213840 1550122 2522450 - Search Results

Year	Number of Results
1965	1
1972	1
1989	1
1990	1
1991	1
1992	2
1993	2
2024	0

1

Neufeld EF. Neufeld EF. Annu Rev Biochem. 1991;60:257-80. doi: 10.1146/annurev.bi.60.070191.001353. Annu Rev Biochem. 1991. PMID: 1883197 Review. No abstract available.

2

Allelism, non-allelism, and genetic compounds among the mucopolysaccharidoses.

McKusick VA, Howell RR, Hussels IE, Neufeld EF, Stevenson RE. McKusick VA, et al. Lancet. 1972 May 6;1(7758):993-6. doi: 10.1016/s0140-6736(72)91159-2. Lancet. 1972. PMID: 4112371 No abstract available.

3

A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype.

Scott HS, Litjens T, Hopwood JJ, Morris CP. Scott HS, et al. Hum Mutat. 1992;1(2):103-8. doi: 10.1002/humu.1380010204. Hum Mutat. 1992. PMID: 1301196

4

Mutation in Scheie syndrome (MPS IS): a G-->A transition creates new splice site in intron 5 of one IDUA allele.

Moskowitz SM, Tieu PT, Neufeld EF. Moskowitz SM, et al. Hum Mutat. 1993;2(2):141-4. doi: 10.1002/humu.1380020215. Hum Mutat. 1993. PMID: 8318992 No abstract available.

5

The genetic mucopolysaccharidoses.

McKusick VA, Kaplan D, Wise D, Hanley WB, Suddarth SB, Sevick ME, Maumanee AE. McKusick VA, et al. Medicine (Baltimore). 1965 Nov;44(6):445-83. doi: 10.1097/00005792-196511000-00001. Medicine (Baltimore). 1965. PMID: 4221470 No abstract available.

6

Two mutations produce intron insertion in mRNA and elongated beta-subunit of human beta-hexosaminidase.

Dlott B, d'Azzo A, Quon DV, Neufeld EF. Dlott B, et al. J Biol Chem. 1990 Oct 15;265(29):17921-7. J Biol Chem. 1990. PMID: 2170400 Free article.

7

Identification of mutations in the alpha-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromes.

Scott HS, Litjens T, Nelson PV, Thompson PR, Brooks DA, Hopwood JJ, Morris CP. Scott HS, et al. Am J Hum Genet. 1993 Nov;53(5):973-86. Am J Hum Genet. 1993. PMID: 8213840 Free PMC article.

8

Immunoquantification and enzyme kinetics of alpha-L-iduronidase in cultured fibroblasts from normal controls and mucopolysaccharidosis type I patients.

Ashton LJ, Brooks DA, McCourt PA, Muller VJ, Clements PR, Hopwood JJ. Ashton LJ, et al. Am J Hum Genet. 1992 Apr;50(4):787-94. Am J Hum Genet. 1992. PMID: 1550122 Free PMC article.

9

Genetic cause of a juvenile form of Sandhoff disease. Abnormal splicing of beta-hexosaminidase beta chain gene transcript due to a point mutation within intron 12.

Nakano T, Suzuki K. Nakano T, et al. J Biol Chem. 1989 Mar 25;264(9):5155-8. J Biol Chem. 1989. PMID: 2522450 Free article.

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