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Items: 12

1.

An improved method for the isolation and assay of the acid lipase from human liver.

Warner TG, Tennant LL, Veath ML, O'Brien JS.

Biochim Biophys Acta. 1979 Feb 26;572(2):201-10.

PMID:
34438
2.

Characterization of unusual hexosaminidase A (HEX A) deficient human mutants.

O'Brien JS, Tennant L, Veath ML, Scott CR, Bucknall WE.

Am J Hum Genet. 1978 Nov;30(6):602-8.

3.

Clinical and biochemical expression of a unique mucopolysaccharidosis.

O'Brien JS, Nyhan WL, Sjear C, Schmidt L, Veath ML.

Clin Genet. 1976 Apr;9(4):399-411.

PMID:
131013
4.

Lysosomal storage disorders. Diagnosis by ultrastructural examination of skin biopsy specimens.

O'Brien JS, Bernett J, Veath ML, Paa D.

Arch Neurol. 1975 Sep;32(9):592-9.

PMID:
809024
5.

Sanfilippo disease type B: enzyme replacement and metabolic correction in cultured fibroblasts.

O'Brien JS, Miller AL, Loverde AW, Veath ML.

Science. 1973 Aug 24;181(4101):753-5.

PMID:
4269326
6.

Fucosidosis: deficiency of alpha-L-fucosidase in cultured skin fibroblasts.

Zielke K, Veath ML, O'Brien JS.

J Exp Med. 1972 Jul 1;136(1):197-9. No abstract available.

7.

Adult Gaucher's disease: kindred studies and demonstration of a deficiency of acid beta-glucosidase in cultured fibroblasts.

Ho MW, Seck J, Schmidt D, Veath ML, Johnson W, Brady RO, O'Brien JS.

Am J Hum Genet. 1972 Jan;24(1):37-45. No abstract available.

8.

Juvenile GM 1 gangliosidosis: clinical, pathological, chemical and enzymatic studies.

O'Brien JS, Ho MW, Veath ML, Wilson JF, Myers G, Opitz JM, ZuRhein GM, Spranger JW, Hartmann HA, Haneberg B, Grosse FR.

Clin Genet. 1972;3(6):411-34. No abstract available.

PMID:
4650864
9.

Ganglioside storage diseases.

O'Brien JS, Okada S, Ho MW, Fillerup DL, Veath ML, Adams K.

Fed Proc. 1971 May-Jun;30(3):956-69. No abstract available.

PMID:
4252532
10.

Tay-Sachs disease: prenatal diagnosis.

O'Brien JS, Okada S, Fillerup DL, Veath ML, Adornato B, Brenner PH, Leroy JG.

Science. 1971 Apr 2;172(3978):61-4.

PMID:
5546285
11.

Ganglioside GM2 storage diseases: hexosaminidase deficiencies in cultured fibroblasts.

Okada S, Veath ML, Leroy J, O'Brien JS.

Am J Hum Genet. 1971 Jan;23(1):55-61. No abstract available.

12.

Juvenile GM2 gangliosidosis: partial deficiency of hexosaminidase A.

Okada S, Veath ML, O'Brien JS.

J Pediatr. 1970 Dec;77(6):1063-5. No abstract available.

PMID:
5486623

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