Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Apparent biochemical homozygosity in two obligatory heterozygotes for metachromatic leukodystrophy.

× No keyword cloud information.

18 in total

Review 1. Basic findings and current developments in sphingolipidoses.

Authors: H Pilz; R Heipertz; D Seidel
Journal: Hum Genet Date: 1979-03-12 Impact factor: 4.132

Review 2. Identification and characterization of pharmacological chaperones to correct enzyme deficiencies in lysosomal storage disorders.

Authors: Kenneth J Valenzano; Richie Khanna; Allan C Powe; Robert Boyd; Gary Lee; John J Flanagan; Elfrida R Benjamin
Journal: Assay Drug Dev Technol Date: 2011-06 Impact factor: 1.738

3. Heterozygote detection in MLD. allelic mutations at the ARA locus.

Authors: D F Farrell
Journal: Hum Genet Date: 1981 Impact factor: 4.132

Review 4. Genetic heterogeneity in metachromatic leukodystrophy.

Authors: H Kihara
Journal: Am J Hum Genet Date: 1982-03 Impact factor: 11.025

5. Attenuated activities and structural alterations of arylsulfatase A in tissues from subjects with pseudo arylsulfatase A deficiency.

Authors: H Kihara; W E Meek; A L Fluharty
Journal: Hum Genet Date: 1986-09 Impact factor: 4.132

6. Two new arylsulfatase A (ARSA) mutations in a juvenile metachromatic leukodystrophy (MLD) patient.

Authors: A L Fluharty; C B Fluharty; W Bohne; K von Figura; V Gieselmann
Journal: Am J Hum Genet Date: 1991-12 Impact factor: 11.025

7. Placental steroid deficiency: association with arylsulfatase A deficiency.

Authors: J Vidgoff; M M Buxman; L J Shapiro; R L Dimond; T G Wilson; C A Hepburn; T Tabei; W R Heinrichs
Journal: Am J Hum Genet Date: 1982-05 Impact factor: 11.025

8. The genetics of the aryl sulfatase A locus.

Authors: T Schaap; J Zlotogora; E Elian; Y Barak; G Bach
Journal: Am J Hum Genet Date: 1981-07 Impact factor: 11.025

9. Atypical metachromatic leukodystrophy? Problems with the biochemical diagnosis.

Authors: T Tønnesen; C Vrang; U N Wiesmann; H Christomanou; H O Lou
Journal: Hum Genet Date: 1984 Impact factor: 4.132

10. Pseudo arylsulfatase-A deficiency in healthy individuals: genetic and biochemical relationship to metachromatic leukodystrophy.

Authors: P L Chang; R G Davidson
Journal: Proc Natl Acad Sci U S A Date: 1983-12 Impact factor: 11.205