|1.||Globoid Cell Leukodystrophy (Krabbe Disease)
|2.||Demyelinating Diseases (Demyelinating Disease)
|3.||Metachromatic Leukodystrophy (Sulfatide Lipidosis)
|4.||Gaucher Disease (Gaucher's Disease)
|5.||Adrenoleukodystrophy (Adrenoleukodystrophy, X-Linked)
|1.||Wenger, David A: 17 articles (11/2015 - 04/2004)|
|2.||Sands, Mark S: 12 articles (04/2015 - 07/2004)|
|3.||Bongarzone, Ernesto R: 12 articles (01/2015 - 02/2007)|
|4.||Rafi, Mohammad A: 9 articles (11/2015 - 05/2005)|
|5.||Singh, Inderjit: 9 articles (01/2015 - 05/2002)|
|6.||Bunnell, Bruce A: 9 articles (02/2014 - 06/2007)|
|7.||Martino, Sabata: 8 articles (06/2015 - 03/2009)|
|8.||Lopez-Rosas, Aurora: 8 articles (01/2015 - 12/2007)|
|9.||Singh, Avtar K: 8 articles (01/2015 - 05/2002)|
|10.||Luzi, Paola: 7 articles (11/2015 - 05/2005)|
03/01/2009 - "The determination of cellular beta-galactocerebrosidase activity is an established procedure to diagnose Krabbe disease and monitor the efficacy of gene/stem cell-based therapeutic approaches aimed at restoring defective enzymatic activity in patients or disease models. "
08/01/2012 - "To assess the utility of a telephone-based interview system in providing ongoing monitoring of the developmental and functional status of children with both positive newborn screens for Krabbe disease and low galactocerebrosidase activity on confirmatory testing, and to determine whether this approach provides improved compliance with follow-up compared with formal neuropsychological testing. "
06/01/2009 - "This study characterized the therapeutic benefits of combining hematogenous cell replacement with lentiviral-mediated gene transfer of galactosylceramidase (GALC) in Twitcher mice, a bona fide model for Krabbe disease. "
01/01/1997 - "We report here a detailed ultrastructural study of a brain biopsy along with post-mortem brain and optic nerve specimens from a case of Krabbe disease, a relatively rare leukodystrophy caused by a mutation in the gene for galactocerebrosidase (GALC) mapped to the 14q31 region of chromosome 14. "
11/01/2015 - "Krabbe disease is an autosomal recessive disorder resulting from defects in the lysosomal enzyme galactocerebrosidase (GALC). "
06/15/2005 - "Our results suggest that inhibition of peroxisomal functions and increased free radical production by psychosine may be partly responsible for oligodendrocyte and myelin loss observed in the Krabbe's brain, and that antioxidant therapy may be useful in the treatment of Krabbe's disease."
01/01/1997 - "Previous studies have suggested that psychosine is the causative agent for the pathogenesis of Krabbe's disease. "
01/30/1990 - "Galactosylceramide and galactosylsphingosine loading studies in cultured skin fibroblasts in human and murine globoid cell leukodystrophy."
09/01/2015 - "Measurement of psychosine in dried blood spots--a possible improvement to newborn screening programs for Krabbe disease."
01/28/2015 - "Twitcher and GLD dog muscles had significant capacity to store psychosine, the neurotoxin that accumulates in Krabbe disease. "
08/01/1981 - "The study showed that prenatal diagnosis of Krabbe disease is difficult because of the relatively high residual cerebroside-beta-galactosidase activity in some affected fetuses. "
09/20/2002 - "Globoid cell leukodystrophy (GLD) is an autosomal recessive disorder of infants, caused by deficient activity of cerebroside-beta-galactosidase resulting in loss of myelin accompanied by loss of oligodendrocytes. "
12/01/1989 - "Sixteen pregnancies in families with children enzymatically diagnosed as having Krabbe disease (KD) were monitored for prenatal KD using the assay of galactosyl ceramide beta-galactosidase (GCG) in uncultured chorionic villi (CV), cultured CV, or cultured amniotic fluid cells (AFC). "
06/16/1982 - "In 24 pregnancies at risk for Krabbe disease (KD) monitored by amniocentesis in the 15th to 18th week, the amniocytic galactosyl ceramide beta-galactosidase activity was either lower than 11% (n = 12) or higher than 28% (n = 12) of the mean control amniocytic activity (n = 27). "
08/01/1981 - "The biological variation was investigated further by measuring the cerebroside-beta-galactosidase activity in cultured skin fibroblasts from infants with Krabbe disease and from their parents. "
01/31/1992 - "In control samples, the specific activity (nmol/mg prot./h) for HMGal is higher than for the natural substrate, galactocerebroside, and is severely deficient in the twitcher mouse and in patients with Krabbe disease. "
12/15/1982 - "An accumulation of galactocerebroside in kidney from mouse globoid cell leukodystrophy (twitcher)."
07/01/1991 - "The progression and characteristics of magnetic resonance imaging (MRI) and computed tomographic (CT) findings in 3 patients with infantile Krabbe disease (i.e., globoid cell leukodystrophy or galactocerebroside beta-galactosidase deficiency) are reported. "
01/01/1975 - "A Japanese boy was diagnosed as globoid cell leukodystrophy on the basis of a marked decrease in the galactocerebroside beta-galactosidase activity in the leukocytes and the serum when one year and two months old. "
08/01/2013 - "Globoid cell leukodystrophy (GLD) is a common neurodegenerative lysosomal storage disorder caused by a deficiency in galactocerebrosidase (GALC), an enzyme that cleaves galactocerebroside during myelination. "
11/01/2008 - "The combination of MAC and stem cell technologies offers a new strategy for stem cell-based therapy, the efficacy of which was confirmed and validated by using a mouse model of a devastating monogenic disease, galactocerebrosidase deficiency (Krabbe's disease). "
01/01/2014 - "Krabbe disease (galactocerebrosidase deficiency) is an inherited leukodystrophy that results in severe neurological defects due to altered myelination. "
09/01/2003 - "Krabbe's disease (galactocerebrosidase deficiency) rarely presents in adults, usually with predominantly upper motor neurone clinical features. "
05/01/2002 - "A unique family with Krabbe's disease is described, with proven GALC deficiency but normal MRI. "
01/01/1999 - "We investigated the molecular basis of GALC deficiency in a patient with a late-life mild form of globoid cell leukodystrophy who survived into the eighth decade. "
|6.||Galactose (Galactopyranose)FDA LinkGeneric
01/06/2014 - "The Twitcher mouse is a model for the Krabbe disease, characterized by the deficiency of galactosylceramidase (GALC), a lysosomal enzyme that hydrolyzes the terminal galactose from galactosylceramide, a typical component of the myelin membrane. "
07/01/2010 - "A galactose-free diet enriched in soy isoflavones and antioxidants results in delayed onset of symptoms of Krabbe disease in twitcher mice."
01/31/1992 - "Characterization of 6-hexadecanoylamino-4-methylumbelliferyl-beta-D- galactopyranoside as fluorogenic substrate of galactocerebrosidase for the diagnosis of Krabbe disease."
07/01/2010 - "Krabbe disease or globoid cell leukodystrophy is an autosomal recessively inherited disorder caused by the deficiency of galactocerebrosidase, the lysosomal enzyme that catalyzes the hydrolysis of galactose from galactosylceramide and galactosylsphingosine (psychosine). "
01/01/1980 - "Under experimental conditions optimal for the assay of D-galactosyl-N-acylsphingosine galactohydrolase (EC 220.127.116.11) activity, homogenates of neurologically normal human brain tissue could transfer galactose from galactosyl ceramide (gal-cer), lactosyl ceramide (lac-cer), 4-methylumbelliferyl-beta-galactoside (4-MU-gal), or p-nitrophenyl-beta-galactoside (PNP-gal) to [1-14C]oleoyl sphingosine, but homogenates of brain tissue from patients with Krabbe's disease lacked this ability. "
12/15/1986 - "L-Hexosyl- and thioanalogs of cerebrosides and perhaps psychosines as well may be helpful for investigating the pathogenesis of Krabbe's disease and Gaucher's disease."
07/03/1970 - "Morphologic similarity between the cytoplasmic tubules of globoid leukodystrophy and Gaucher's disease (as demonstrated by thin sectioning, negative staining, and shadowing techniques) and their resemblance to negatively stained beef cerebroside are presented as evidence favoring the accumulation of cerebrosides in globoid cells. "
06/01/1987 - "Hematopoietic cell transplantation (HCT) prolongs survival in the twitcher mouse, an authentic animal model of human globoid cell leukodystrophy (Krabbe disease; galactosylceramidase deficiency), but the effects of HCT on levels of galactosylceramidase, psychosine, and cerebrosides in the tissues of twitcher mice have not been previously studied. "
|9.||Dimethyl Sulfoxide (DMSO)FDA LinkGeneric
|1.||Bone Marrow Transplantation (Transplantation, Bone Marrow)
07/01/2001 - "So far, there is no effective treatment for Krabbe disease except bone marrow transplantation (BMT). "
07/01/2007 - "Bone marrow transplantation (BMT) is currently the treatment of choice for patients with globoid cell leukodystrophy (GLD), particularly in the early phases of the disease. "
02/01/2007 - "Irradiation is one way to condition Twitcher mice--a natural model of globoid cell leukodystrophy (GLD)--prior to receive bone marrow transplantation (BMT). "
01/01/2007 - "Central nervous system-directed AAV2/5-mediated gene therapy synergizes with bone marrow transplantation in the murine model of globoid-cell leukodystrophy."
09/01/2005 - "Biochemical and pathological evaluation of long-lived mice with globoid cell leukodystrophy after bone marrow transplantation."
|2.||Hematopoietic Stem Cell Transplantation
09/01/2010 - "Case series studies suggest that allogeneic hematopoietic stem-cell transplantation soon after the development of signs or symptoms of early-infantile Krabbe disease decreases early-childhood mortality and may improve neurodevelopment. "
08/01/2014 - "As positive controls, we analyzed dried blood spots from three patients with Pompe, one with Fabry, one with Krabbe disease and two with MPS I, and in all cases the enzyme activities were below the cutoff values measured for newborns, except for an MPS I patient after successful hematopoietic stem cell transplantation."
01/01/2013 - "Hematopoietic stem cell transplantation (HSCT) is reported to be successful in treating infants with Krabbe disease prior to the onset of symptoms, but there are no reported cases of its use for adult-onset disease. "
08/01/2010 - "An exception is Krabbe disease, in which hematopoietic stem cell transplantation before the onset of symptoms has benefits. "
08/01/2009 - "Finally, the experience of hematopoietic stem cell transplantation for patients with Krabbe disease is reported and the future possibility of therapy for the disease is summarized."
07/01/2005 - "Hematopoietic cell transplantation ameliorates clinical phenotype and progression of the CNS pathology in the mouse model of late onset Krabbe disease."
07/01/1986 - "Progression of the neuropathy in the Twitcher mouse (twi-C57BL/6J), an animal model of globoid cell leukodystrophy, was assessed with serial motor nerve conduction studies from just after birth until near death (day 45) and after hematopoietic cell transplantation (HCT). "
06/01/2009 - "The only available treatment for infants with early infantile Krabbe disease is hematopoietic cell transplantation (HCT), typically using umbilical cord blood. "
01/01/2013 - "In this review, we present and discuss the available cell transplantation therapies in metabolic leukodystrophies including fucosidosis, X-linked adrenoleukodystrophy, metachromatic leukodystrophy, Canavan disease, and Krabbe's disease. "
02/01/2003 - "For the past two decades, hematopoietic cell transplantation (HCT) has been used as effective therapy for selected inherited metabolic diseases (IMD) including Hurler (MPS IH) and Maroteaux-Lamy (MPS VI) syndromes, childhood-onset cerebral X-linked adrenoleukodystrophy (X-ALD), globoid-cell leukodystrophy (GLD), metachromatic leukodystrophy (MLD), alpha-mannosidosis, osteopetrosis, and others. "
09/01/2010 - "Although early treatment with hematopoietic stem-cell transplant seems to alter early-childhood mortality and some of the morbidity associated with early-infantile Krabbe disease, significant gaps in knowledge exist regarding the accuracy of screening, the strategy for establishing diagnosis, the affect of a positive screen on families, the benefits and harms of treatment, and long-term prognosis."
05/01/2001 - "We report a case of severe left ventricular outflow tract obstruction complicating steroid therapy in an infant undergoing allogeneic transplant in the first few weeks of life for treatment of Krabbe's disease. "
01/01/2006 - "This study was designed to explore the efficacy of these two human stem cell types as a graft source for the treatment of demyelinating disorders such as Krabbe's disease and multiple sclerosis (MS). "
|5.||Enzyme Replacement Therapy
09/01/2015 - "Enzyme replacement therapy of a novel humanized mouse model of globoid cell leukodystrophy."
09/01/2005 - "Enzyme replacement therapy results in substantial improvements in early clinical phenotype in a mouse model of globoid cell leukodystrophy."
09/01/2012 - "Bone marrow transplantation increases efficacy of central nervous system-directed enzyme replacement therapy in the murine model of globoid cell leukodystrophy."
03/01/1973 - "Additional deficiency of psychosine galactosidase in globoid cell leukodystrophy: an implication to enzyme replacement therapy."