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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. Recombinant enzyme therapy for Fabry disease: absence of editing of human alpha-galactosidase A mRNA.

Authors: Daniël Blom; Dave Speijer; Gabor E Linthorst; Wilma G Donker-Koopman; Anneke Strijland; Johannes M F G Aerts
Journal: Am J Hum Genet Date: 2002-12-06 Impact factor: 11.025

3. I-cell disease (mucolipidosis II):a report on its pathology.

Authors: J J Martin; J G Leroy; J P Farriaux; G Fontaine; R J Desnick; A Cabello
Journal: Acta Neuropathol Date: 1975-12-30 Impact factor: 17.088

4. [Neurological symptoms in Fabry's disease. Report of a case with neuromuscular symptoms and review of the literature].

Authors: H Pilz; E Volles; H A Paul; A Denden
Journal: Z Neurol Date: 1972

5. Hepatic galactosylceramide in globoid cell leukodystrophy (Krabbe's disease).

Authors: G Dawson
Journal: Lipids Date: 1973-03 Impact factor: 1.880

6. Increased glycosphingolipid excretion associated with proteinuria.

Authors: R R Townsend; R M Orth; C M Clawson; S C Li; Y T Li
Journal: J Clin Invest Date: 1978-07 Impact factor: 14.808

7. Measurement of urinary CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease.

Authors: K Mills; P Morris; P Lee; A Vellodi; S Waldek; E Young; B Winchester
Journal: J Inherit Metab Dis Date: 2005 Impact factor: 4.982

Diagnosis of glycosphingolipidoses by urinary-sediment analysis.