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 Possible misdiagnosis of Krabbe disease.

× No keyword cloud information.

12 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

2. Detection of the neurotoxin psychosine in samples of peripheral blood: application in diagnostics and follow-up of Krabbe disease.

Authors: Hongling Zhu; Aurora Lopez-Rosas; Xi Qiu; Richard B Van Breemen; Ernesto R Bongarzone
Journal: Arch Pathol Lab Med Date: 2012-07 Impact factor: 5.534

Review 3. Genetic heterogeneity in metachromatic leukodystrophy.

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

4. Cherry red spot in association with galactosylceramide-beta-galactosidase deficiency.

Authors: K J Hofman; S Naidu; H W Moser; I H Maumenee; D A Wenger
Journal: J Inherit Metab Dis Date: 1987 Impact factor: 4.982

Review 5. "Pseudodeficiencies" of lysosomal hydrolases.

Authors: G H Thomas
Journal: Am J Hum Genet Date: 1994-06 Impact factor: 11.025

6. Pseudodeficiency of arylsulfatase A: a common genetic polymorphism with possible disease implications.

Authors: C Hohenschutz; P Eich; W Friedl; A Waheed; E Conzelmann; P Propping
Journal: Hum Genet Date: 1989-04 Impact factor: 4.132

7. 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

8. Low beta-glucuronidase activity in a healthy member of a family with mucopolysaccharidosis VII.

Authors: A Chabas; M L Giros; A Guardiola
Journal: J Inherit Metab Dis Date: 1991 Impact factor: 4.982

9. Fetal Krabbe leukodystrophy. A morphologic study of two cases.

Authors: J J Martin; J G Leroy; C Ceuterick; J Libert; P Dodinval; L Martin
Journal: Acta Neuropathol Date: 1981 Impact factor: 17.088

10. Diagnosis of metachromatic leukodystrophy, Krabbe disease, and Farber disease after uptake of fatty acid-labeled cerebroside sulfate into cultured skin fibroblasts.

Authors: T Kudoh; D A Wenger
Journal: J Clin Invest Date: 1982-07 Impact factor: 14.808