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Literature DB >> 6122378

Genetic heterogeneity in metachromatic leukodystrophy.

H Kihara.

Abstract

Entities: Disease Mutation

Mesh：

Substances：

Year: 1982 PMID： 6122378 PMCID： PMC1685282

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

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75 in total

1. Experimental studies on the pathogenesis of leucodystrophies. II. The effect of sphingolipids on various cell types in cultures from the nervous system.

Authors: P Sourander; H A Hansson; Y Olsson; L Svennerholm
Journal: Acta Neuropathol Date: 1966-06-01 Impact factor: 17.088

2. Infantile metachromatic leukodystrophy.

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

3. 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

4. Role of amniocentesis in the intrauterine detection of genetic disorders.

Authors: H L Nadler; A B Gerbie
Journal: N Engl J Med Date: 1970-03-12 Impact factor: 91.245

5. Abnormal sulphatase activities in two human diseases (metachromatic leucodystrophy and gargoylism).

Authors: J Austin; D McAfee; D Armstrong; M O'Rourke; L Shearer; B Bachhawat
Journal: Biochem J Date: 1964-11 Impact factor: 3.857

6. [A cerebrosidesulfatase from swine kidney].

Authors: E Mehl; H Jatzkewitz
Journal: Hoppe Seylers Z Physiol Chem Date: 1964

7. Metachromatic leukodystrophy: diagnosis with samples of venous blood.

Authors: A K Percy; R O Brady
Journal: Science Date: 1968-08-09 Impact factor: 47.728

8. Metachromatic leukodystrophy (sulfatide lipidoses) cultured in vitro.

Authors: H Cravioto; J O'Brien; R Lockwood; F H Kasten; J Booher
Journal: Science Date: 1967-04-14 Impact factor: 47.728

9. Metachromatic leukodystrophy (MLD). 8. MLD in adults; diagnosis and pathogenesis.

Authors: J Austin; D Armstrong; S Fouch; C Mitchell; D Stumpf; L Shearer; O Briner
Journal: Arch Neurol Date: 1968-03

10. Metachromatic leukodystrophy: arylsulfatase-A deficiency in skin fibroblast cultures.

Authors: M T Porter; A L Fluharty; H Kihara
Journal: Proc Natl Acad Sci U S A Date: 1969-03 Impact factor: 11.205

9 in total

1. Late-onset Krabbe disease initially diagnosed as cerebroside sulfatase activator deficiency.

Authors: A L Fluharty; L Neidengard; D Holtzman; H Kihara
Journal: Metab Brain Dis Date: 1986-09 Impact factor: 3.584

2. Increased concentration of the CSF Tau protein and its phosphorylated form in the late juvenile metachromatic leukodystrophy form: a case report.

Authors: Joanna Tarasiuk; Katarzyna Kapica-Topczewska; Alina Kułakowska; Dorota Halicka; Wiesław Drozdowski; Johannes Kornhuber; Piotr Lewczuk
Journal: J Neural Transm (Vienna) Date: 2012-05-24 Impact factor: 3.575

3. Biliary disease in metachromatic leukodystrophy.

Authors: L Heier; A Daneman; J A Lowden; E Cutz; S Craw; D J Martin
Journal: Pediatr Radiol Date: 1983

4. Arylsulfatase A in pseudodeficiency.

Authors: B Herz; G Bach
Journal: Hum Genet Date: 1984 Impact factor: 4.132

5. Polyposis of the gallbladder associated with metachromatic leukodystrophy.

Authors: M Ries; K H Deeg
Journal: Eur J Pediatr Date: 1993-05 Impact factor: 3.183

6. Juvenile and adult metachromatic leukodystrophy: partial restoration of arylsulfatase A (cerebroside sulfatase) activity by inhibitors of thiol proteinases.

Authors: K von Figura; F Steckel; A Hasilik
Journal: Proc Natl Acad Sci U S A Date: 1983-10 Impact factor: 11.205