Mucopolysaccharidosis III A (Sanfilippo Disease Type A). Histochemical, Electron Microscopical and Biochemical Findings

Cain, H.; Egner, E.; Kresse, Hans

doi:10.1016/s0005-8165(77)80006-1

Cited by 14 publications

(3 citation statements)

References 20 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Human placentae were obtained about 1 h after delivery from a nearby maternity home. The liver of a patient suffering from Sanfilippo's disease type A (Cain et al, 1977) was obtained at autopsy and stored frozen at -20°C until use. [N-sulpho-35S]-Heparin (sp.…”

Section: Methodsmentioning

confidence: 99%

Multiple forms of 2-deoxy-d-glucoside-2-sulphamate sulphohydrolase from human placenta

Paschke¹,

Kresse²

1979

Biochemical Journal

View full text Add to dashboard Cite

2-Deoxyglucoside-2-sulphamate sulphohydrolase was purified about 10 000-fold from the soluble extract of human placenta by using as substrate [N-sulpho-35S]heparin. Differently charged enzyme forms were observed on chromatography on DEAE-cellulose, all of which had an apparent mol.wt. of 110 000 as determined by gel filtration. By using immobilized heparan sulphate as affinity matrix the sulphamate sulphohydrolase could be separated into two forms, a minor one with low and a major one with high affinity for the adsorbent. When tested with [N-sulpho-35S]heparan sulphate the low-affinity form had a Km of 0.2 mM, and the high-affinity form a Km of 0.03 mM. Both forms exhibited the same Km of 10 microM towards [N-sulpho-35S]heparin and were equally well adsorbed to immobilized heparin. The two forms could be distinguished by their pH-optima and by the influence of KCl on heparan sulphate sulphohydrolase activity.

show abstract

Section: Methodsmentioning

confidence: 99%

Multiple forms of 2-deoxy-d-glucoside-2-sulphamate sulphohydrolase from human placenta

Paschke¹,

Kresse²

1979

Biochemical Journal

View full text Add to dashboard Cite

show abstract

“…exist in the literature [Burdea et al, 1972;Cain et al, 1977;Danks et al, 1972;Greenwood et al, 1978;Harper et al, 1974;Haust 1968aHaust , 1968bHaust et al, 1963;Haust et al, 1971;Konyar et al, 1972;Kriel et al, 1978;Haust, 1975a, 1975b;Taori et al, 1972;van Gemund et al, 1971;Wallace et al, 1966;Witting et al, 19751. Most of these reported on the changes in the brain or liver, with a few investigations including the peripheral leukocytes and skin, seldom other tissues.…”

Section: N -A C E T Y L G L U C O S a M I N E -6 -S U L F A T Ementioning

confidence: 99%

“…In most of the reports, only light microscopic examination with or without histochemistry, was carried out, and in less than half of the studies, electron microscopy was employed. In a recent study of one patient with type A and another type C variant, the changes in various tissues were compared, but no significant morphological differences were found [Martin et al, 19791, nor were any found between the few identified patients with type A and type B variants [Cain et al, 1977;Shimanura et al, 1976;Witting et al, 19751. Certain aspects of the findings reported in the present case require further comments.…”

Section: N -A C E T Y L G L U C O S a M I N E -6 -S U L F A T Ementioning

confidence: 99%

Clinicopathological conference: An adolescent girl with severe mental impairment and mucopolysacchariduria

et al. 1985

View full text Add to dashboard Cite

This 14E-year-old white girl was born at term to healthy, young, intelligent, and unrelated parents. She was the third of five children; all her sibs were normal. Pregnancy, labor, and delivery were normal, and the baby weighed 3.4 kg at birth. The neonatal period was uneventful; she gained weight satisfactorily and developed normally, walking at 14 months and being toilet-trained around 2 years. Towards the end of the second year the girl began to have a copious nasal discharge and the parents also became concerned because she was slow in learning to speak and seemed to have difficulty hearing. At 18 months the patient was capable of saying a few words, but she never said sentences. In the 3rd and 4th years of life she showed

show abstract

Pathologic Findings in Mucopolysaccharidosis Type IIIB (Sanfilippo's Syndrome B)

Hadfield¹,

Ghatak²,

Nakoneczna³

et al. 1980

Archives of Neurology

View full text Add to dashboard Cite

Mucopolysaccharidosis III A (Sanfilippo Disease Type A). Histochemical, Electron Microscopical and Biochemical Findings

Cited by 14 publications

References 20 publications

Multiple forms of 2-deoxy-d-glucoside-2-sulphamate sulphohydrolase from human placenta

Multiple forms of 2-deoxy-d-glucoside-2-sulphamate sulphohydrolase from human placenta

Clinicopathological conference: An adolescent girl with severe mental impairment and mucopolysacchariduria

Pathologic Findings in Mucopolysaccharidosis Type IIIB (Sanfilippo's Syndrome B)

Contact Info

Product

Resources

About