Literature DB >> 52698

Late infantile metachromatic leucodystrophy (MLD). Clinical and diagnostic evaluation in a typical case.

L N Rossi, F Vassella, A Bischoff, U N Wiesmann, N Herschkowitz.   

Abstract

A typical case of late infantile MLD is presented with all available clinical, morphological and biochemical results. The diagnostical value of the different parameters is evaluated and the pathogenesis of the disorder discussed. In spite of successful experimental enzyme substitution in cultured MLD fibroblasts with restitution of function by added Arylsulfatase, the therapeutic possibilities for the fatal disease in the patients are extremely limited.

Entities:  

Mesh：

Year:  1975        PMID： 52698     DOI： 10.1007/bf00316530

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


  21 in total

1.  [Diagnosis of a case of metachromatic leucodystrophy (Scholz type) by biopsy of a peripheral nerve].

Authors:  S THIEFFRY; G LYON
Journal:  Rev Neurol (Paris)       Date:  1959-05       Impact factor: 2.607

2.  The assay of arylsulphatases A and B in human urine.

Authors:  H BAUM; K S DODGSON; B SPENCER
Journal:  Clin Chim Acta       Date:  1959-05       Impact factor: 3.786

3.  Metachromatic form of diffuse cerebral sclerosis. I. Diagnosis during life by urine sediment examination.

Authors:  J H AUSTIN
Journal:  Neurology       Date:  1957-06       Impact factor: 9.910

4.  Infantile metachromatic leukodystrophy.

Authors:  M M Kaback; R R Howell
Journal:  N Engl J Med       Date:  1970-06-11       Impact factor: 91.245

5.  The accumulation of cerebroside sulfates by fibroblasts in culture from patients with late infantile metachromatic leukocystrophy.

Authors:  M T Porter; A L Fluharty; S E Harris; H Kihara
Journal:  Arch Biochem Biophys       Date:  1970-06       Impact factor: 4.013

6.  The reliability of the diagnosis of metachromatic leucodystrophy by peripheral nerve biopsy.

Authors:  Y Olsson; P Sourander
Journal:  Acta Paediatr Scand       Date:  1969-01

7.  Correction of the defective sulfatide degradation in cultured fibroblasts from patients with metachromatic leucodystrophy.

Authors:  U N Wiesmann; E E Rossi; N N Herschkowitz
Journal:  Acta Paediatr Scand       Date:  1972-05

8.  Metachromatic leucodystrophy in early childhood. Treatment with a diet deficient in vitamin A.

Authors:  J C Melchior; J Clausen
Journal:  Acta Paediatr Scand       Date:  1968-01

9.  Metachromatic leucodystrophy. Assay of arylsulfatase activities in the urine.

Authors:  B Hagberg; P A Ockerman
Journal:  Neuropadiatrie       Date:  1970-08

10.  E.E.G. studies in 22 children with sulphatide lipidosis (metachromatic leucodystrophy).

Authors:  C Mastropaolo; G Pampiglione; R Stephens
Journal:  Dev Med Child Neurol       Date:  1971-02       Impact factor: 5.449
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.