Literature DB >> 6808304

Enzymic diagnosis of the genetic mucopolysaccharide storage disorders.

H Kresse, K von Figura, U Klein, J Glössl, E Paschke, R Pohlmann.   

Abstract

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Year:  1982        PMID： 6808304     DOI： 10.1016/0076-6879(82)83052-8

Source DB:  PubMed          Journal:  Methods Enzymol        ISSN： 0076-6879            Impact factor:   1.600


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  12 in total

1.  Prevalence of different types of lysosomal storage diseases in Saudi Arabia.

Authors:  P T Ozand; G Gascon; A al Aqeel; G Roberts; M Dhalla; S B Subramanyam
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

2.  Immunoquantification of the low abundance lysosomal enzyme N-acetylgalactosamine 4-sulphatase.

Authors:  D A Brooks; P A McCourt; G J Gibson; J J Hopwood
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

3.  Elevation of urinary N-acetyl-beta-D-glucosaminidase and beta-galactosidase activities in workers with long-term exposure to aromatic nitro-amino compounds.

Authors:  M Yoshida; M Sunaga; I Hara; M Katsumata; M Minami
Journal:  Bull Environ Contam Toxicol       Date:  1989-07       Impact factor: 2.151

4.  Biochemical diagnosis of mucopolysaccharidoses: experience of 297 diagnoses in a 15-year period (1977-1991).

Authors:  P Di Natale; T Annella; A Daniele; T De Luca; E Morabito; R Pallini; P Rosario; G Spagnuolo
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

5.  Diagnosis and prevention of lysosomal storage diseases in Russia.

Authors:  K D Krasnopolskaya; T V Mirenburg; E L Aronovich; T V Lebedeva; O N Odinokova; N A Demina; V M Kozlova; M I Kuznetsov
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

6.  [Diffuse stromal corneal opacity and alterations of the hands].

Authors:  I M Lanzl; S-F Seidova; A Erben; K Thürmel; K Kotliar
Journal:  Ophthalmologe       Date:  2010-04       Impact factor: 1.059

7.  Cardiovascular Abnormalities in Egyptian Children with Mucopolysaccharidoses.

Authors:  Laila Selim; Nehal Abdelhamid; Emad Salama; Amera Elbadawy; Iman Gamaleldin; Mohamed Abdelmoneim; Abeer Selim
Journal:  J Clin Diagn Res       Date:  2016-11-01

8.  Dyggve-Melchior-Clausen syndrome: clinical, genetic, and radiological study of 15 Egyptian patients from nine unrelated families.

Authors:  Mona S Aglan; Samia A Temtamy; Ekram Fateen; Adel M Ashour; Khamis Eldeeb; Gamal A Hosny
Journal:  J Child Orthop       Date:  2009-10-09       Impact factor: 1.548

Review 9.  Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA.

Authors:  C J Hendriksz; P Harmatz; M Beck; S Jones; T Wood; R Lachman; C G Gravance; T Orii; S Tomatsu
Journal:  Mol Genet Metab       Date:  2013-04-10       Impact factor: 4.797

Review 10.  Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome).

Authors:  Edina M K da Silva; Maria Wany Louzada Strufaldi; Regis B Andriolo; Laercio A Silva
Journal:  Cochrane Database Syst Rev       Date:  2016-02-05
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