Characterization of 6-hexadecanoylamino-4-methylumbelliferyl-β-d-galactopyranoside as fluorogenic substrate of galactocerebrosidase for the diagnosis of Krabbe disease

Wiederschain, G.Ya.; Raghavan, Subharekha; Kolodny, Edwin H.

doi:10.1016/s0009-8981(05)80003-8

Cited by 52 publications

(57 citation statements)

References 12 publications

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“…At least 30 000 cells were acquired with a FACScan TM flow cytometer (Becton Dickinson), and analysis was performed using the Cell Quest TM software program (Becton Dickinson). Enzyme (galactocerebrosidase or alpha-l-iduronidase) activity [10][11][12] in peripheral blood WBC and plasma were assayed at day +21 and then once a month during the first year and once every 3 months during the second year after HSCT, using fluorogenic artificial substrates. Chimerism was assessed at the same time using semiquantitative variable nucleotide tandem repeats (VNTR) polymorphism evaluation of monocytes.…”

Section: Methodsmentioning

confidence: 99%

Allogeneic bone marrow stem cell transplantation following CD34+ immunomagnetic enrichment in patients with inherited metabolic storage diseases

Gaipa

Dassi

Perseghin

et al. 2003

Bone Marrow Transplant

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Summary:T-cell depletion is an essential step in reducing the risk of graft-versus-host disease (GVHD) in patients with inherited metabolic storage diseases (IMSD) undergoing hematopoietic stem cell transplantation. This goal can be achieved either by selective removal of T cells or by positive selection of CD34+ cells. Large-scale preparations of purified CD34+ cells from bone marrow products have not been extensively described. We report our results with bone marrow CD34+ cell enrichment using the CliniMACS system in eight children with IMSD. The median recovery of positively selected CD34+ cells was 46.2% with a purity of 97.5%, and a residual T cell content of 0.04 Â 10 6 . A median of 5.5 Â 10 6 /kg of CD34+ cells was infused. All patients engrafted at a median time of 12 days and none of the patients developed GVHD. This method is technically feasible and can be successfully used to transplant children with IMSD.

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Section: Methodsmentioning

confidence: 99%

Allogeneic bone marrow stem cell transplantation following CD34+ immunomagnetic enrichment in patients with inherited metabolic storage diseases

Gaipa

Dassi

Perseghin

et al. 2003

Bone Marrow Transplant

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“…The study was approved by the Ethics Committee of the Institute of Child Health. Methods b-Galactocerebrosidase activity was assayed in leukocyte homogenates using tritium-labeled [H 3 ] galactosylceramide (ARC; American Radiolabeled Chemicals, Inc.) or 6-hexadecanoyl-4-methylumbelliferyl-b-D-galactopyranoside (Glycosynth) as substrates (Wiederschain et al 1992;Young et al 1972).…”

Section: Patientsmentioning

confidence: 99%

The Spectrum of Krabbe Disease in Greece: Biochemical and Molecular Findings

et al. 2015

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“…The measure of GALC activity is performed by biochemical assay using radioactive [16] Gene Technology [17] galactosylceramide substrate in blood leukocytes or in cultured skin fibroblasts.…”

Section: Gene Technology Applied To Kd Diagnosismentioning

confidence: 99%

Genetic Test and Gene Therapy for Krabbe Disease: An Update

Graziano

Cardile²

2014

Gene Technology

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Globoid cell leukodystrophy, also known as Krabbe disease, is an inherited metabolic neurodegenerative disease, due to genetic mutation of β-galactocerebrosidase gene. Here we reviewed how the technological advances in gene analysis have enhanced the enrichment of mutation database. Moreover, we focus on the possibility to develop genetic treatments, hoping that the updating of genetic, clinical and biochemical data will improve for an early and efficient diagnosis, until a definitive treatment option will be identified.

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Characterization of 6-hexadecanoylamino-4-methylumbelliferyl-β-d-galactopyranoside as fluorogenic substrate of galactocerebrosidase for the diagnosis of Krabbe disease

Cited by 52 publications

References 12 publications

Allogeneic bone marrow stem cell transplantation following CD34+ immunomagnetic enrichment in patients with inherited metabolic storage diseases

Allogeneic bone marrow stem cell transplantation following CD34+ immunomagnetic enrichment in patients with inherited metabolic storage diseases

The Spectrum of Krabbe Disease in Greece: Biochemical and Molecular Findings

Genetic Test and Gene Therapy for Krabbe Disease: An Update

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