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21. |
Letter to the Editor |
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Pediatric Research,
Volume 18,
Issue 3,
1984,
Page 300-301
MAURICE COHEN,
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ISSN:0031-3998
出版商:OVID
年代:1984
数据来源: OVID
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22. |
Letter to the Editor Reply |
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Pediatric Research,
Volume 18,
Issue 3,
1984,
Page 301-301
B SAMPSON,
G B BARLOW,
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ISSN:0031-3998
出版商:OVID
年代:1984
数据来源: OVID
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23. |
PARTIAL DEFICIENCY OF GLYCOPROTEIN NEURAMINIDASE IN SOME PATIENTS WITH MORQUIO DISEASE TYPE A |
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Pediatric Research,
Volume 18,
Issue 3,
1984,
Page 302-305
Josef Glössl,
Hans Kresse,
Klaus Mendla,
Michael Cantz,
Walter Rosenkranz,
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摘要:
SUMMARYA deficiency of glycoprotein neuraminidase (sialidase, acylneuraminyl hydrolase, EC 3.2.1.18) activity was found in fibroblasts from a patient with the clinical symptoms of Morquio disease type A (mucopolysaccharidosis IV A ). Residual neuraminidase activity was about 5 % of the mean normal activity. N-Acetylgalactosamine- 6-sulfate (GalNAc-6-S) sulfatase activity was reduced to less than 1 % of normal with a pH-optimum of 3.0 as expected for the severe form of Morquio disease. In peripheral leucocytes of the patient, however, neuraminidase activity but not GalNAc-6-S sulfatase activity was in the normal range. Mixing experiments excluded the presence of excessive amounts of inhibitors of neuraminidase activity.In the urine of the patient, the content of bound sialic acid was with 0.357 nmol/mg creatinine increased, but amounted for only about 10 % of that of a sialidosis patient.Somatic cell hybridization of the patient's fibroblasts with those from a Morquio A patient did not result in complementation of GalNAc-6-S sulfatase activity. Fusion with sialidosis fibroblasts, on the other hand, yielded a significant increase in neuraminidase activity.Reinvestigation of 10 different Morquio A cell lines revealed two of them to have neuraminidase activities below the normal range, whereas the activity of 6 cell lines was in the low normal range.
ISSN:0031-3998
出版商:OVID
年代:1984
数据来源: OVID
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24. |
SERIAL DETERMINATIONS OF CIRCULATING IMMUNE COMPLEXES (CIC) IN THE SERA OF CHILDREN WITH RHEUMATIC DISEASE |
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Pediatric Research,
Volume 18,
Issue 3,
1984,
Page 306-306
Donald Person,
Gregory Buffone,
Carolyn Leatherwood,
Earl Brewer,
Edward Giannini,
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ISSN:0031-3998
出版商:OVID
年代:1984
数据来源: OVID
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25. |
JRA-ADJUSTMENT TO ILLNESS |
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Pediatric Research,
Volume 18,
Issue 3,
1984,
Page 307-307
Raquel Hicks,
Solange Cook,
Willow Morton,
Gayle Kutaka,
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PDF (95KB)
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ISSN:0031-3998
出版商:OVID
年代:1984
数据来源: OVID
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