Zobrazeno 1 - 10
of 70
pro vyhledávání: '"D M Broadhead"'
Publikováno v:
Clinical Genetics. 30:392-398
A 2.5-year-old girl who presented with abdominal distension, hepatomegaly, coarse facies, hirsutism and contraction deformities was investigated for mucopolysaccharidoses. Urinary excretion showed increased total glycosaminoglycans (105 mg/mmol creat
Publikováno v:
Clinical Genetics. 14:213-218
A low arylsulphatase A activity was noted in the leukocytes and cultured skin fibroblasts of a child without any other symptoms of metachromatic leukodystrophy. Although the mother had a level of arylsulphatase A commensurate with heterozygosity for
Publikováno v:
Journal of Inherited Metabolic Disease. 18:221-223
Publikováno v:
Journal of inherited metabolic disease. 13(3)
Publikováno v:
Prenatal Diagnosis. 12:72-73
Autor:
D M Broadhead, G T N Besley
Publikováno v:
Biochemical Journal. 155:205-208
Human brain hexosaminidase C was separated from isoenzymes A and B by Sephadex G-200 gel filtration. Properties of the enzyme were studied, particularly its isoelectric-focusing profile, pI4.80. These findings indicate that hexosaminidase C is identi
Autor:
J. Butterworth, D. M. Broadhead
Publikováno v:
Journal of Inherited Metabolic Disease. 2:71-74
4-Methylumbelliferyl-α-l-iduronide provided a more sensitive method than phenyl-α-l-iduronide for the estimation of α-l-iduronidase in cultured cells and could be used to diagnose Hurler's disease. The 4-methylumbelliferyl derivative was no more u
Autor:
G. T. N. Besley, D. M. Broadhead
Publikováno v:
Journal of Inherited Metabolic Disease. 10:236-238
There is much current interest in disorders of peroxisomal function and until recently little was known of the biochemical basis of these diseases. In patients such as those with Zellweger syndrome (McKusick 21410) where there is a generalized peroxi
Publikováno v:
Agronomy Journal. 55:164-166