Lista de obras - Edwin Hillel Kolodny - Dominio Público Uruguay

A Human Kidney cDNA Which Induces a Cell Surface Protein Epitope Recognized by a Monoclonal Antibody against Galactosylceramide

scientific article published on 01 October 1996

A neurological symptom survey of patients with type I Gaucher disease

artículo científico publicado en 2003

Acute cerebrovascular disease in the young: the Stroke in Young Fabry Patients study

artículo científico

Acute confusional migraine may be a presenting feature of CADASIL.

artículo científico publicado en 2009

Anderson-Fabry disease: extrarenal, neurologic manifestations

artículo científico publicado en 2002

Antisulfatide IgG Antibodies Recognize HIV Proteins ⬇️

artículo científico publicado el 1 de mayo de 1997

Bone marrow-derived mesenchymal stem cells remain host-derived despite successful hematopoietic engraftment after allogeneic transplantation in patients with lysosomal and peroxisomal storage diseases

scientific article published on 01 November 1999

CNS pathology and vascular/circulatory abnormalities in Fabry disease

scientific article published on 01 April 2006

Cerebrovascular involvement in Fabry disease: current status of knowledge

artículo científico

Correction of the galactocerebrosidase deficiency in globoid cell leukodystrophy-cultured cells by SL3-3 retroviral-mediated gene transfer

artículo científico publicado en 1996

Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry

artículo científico publicado en 2002

Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations

artículo científico publicado en 2004

Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase).

artículo científico publicado en 2004

Enzyme replacement therapy improves cardiovascular responses to orthostatic challenge in Fabry patients

artículo científico publicado en 2010

Fabry disease - underestimated in the differential diagnosis of multiple sclerosis?

artículo científico publicado en 2013

Familial spastic paraparesis. Is it a mitochondrial disorder?

scientific article published on 01 January 1995

Family History in Young Patients With Stroke

artículo científico

Frequency of MELAS main mutation in a phenotype-targeted young ischemic stroke patient population

artículo científico publicado en 2015

G(M2)-ganglioside metabolism in situ in mucolipidosis IV fibroblasts

scientific article published on 01 April 1999

GM1-gangliosidosis in American black bears: clinical, pathological, biochemical and molecular genetic characterization

artículo científico publicado en 2014

GM2 gangliosidosis in British Jacob sheep.

artículo científico publicado en 2013

GM2-ganglioside metabolism in cultured human skin fibroblasts: unambiguous diagnosis of GM2-gangliosidosis

artículo científico publicado en 1985

GM2-ganglioside metabolism in hexosaminidase A deficiency states: determination in situ using labeled GM2 added to fibroblast cultures

artículo científico publicado en 1985

Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients

artículo científico publicado en 2004

Gaucher disease: Basic and translational science needs for more complete therapy and management

artículo científico publicado en 2020

Globoid cell leukodystrophy (Krabbe disease): normal umbilical cord blood galactocerebrosidase activity and polymorphic mutations

artículo científico publicado en 2005

Headache as a symptom at stroke onset in 4,431 young ischaemic stroke patients. Results from the "Stroke in Young Fabry Patients (SIFAP1) study".

artículo científico publicado en 2013

Hippocampal atrophy as a surrogate of neuronal involvement in Fabry disease ⬇️

artículo científico publicado el 20 de septiembre de 2011

Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease

scientific article published on 01 November 2002

In vivo and in vitro glioma cell killing induced by an adenovirus expressing both cytosine deaminase and thymidine kinase and its association with interferon-alpha

artículo científico publicado en 1999

Isolation and characterization of the normal canine beta-galactosidase gene and its mutation in a dog model of GM1-gangliosidosis

artículo científico publicado en 2000

Juvenile-onset motor neuron disease caused by novel mutations in β-hexosaminidase ⬇️

artículo científico publicado el 2 de noviembre de 2012

Late-onset GM2 gangliosidosis: Ashkenazi Jewish family with an exon 5 mutation (Tyr180-->His) in the Hex A alpha-chain gene

artículo científico publicado en 1996

Late-onset Tay-Sachs disease

artículo científico publicado en 2004

Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients

artículo científico publicado en 2005

Late-onset Tay-Sachs disease: the spectrum of peripheral neuropathy in 30 affected patients

artículo científico publicado en 2008

Lessons from everyday stroke care for clinical research and vice versa: comparison of a comprehensive and a research population of young stroke patients

artículo científico publicado en 2014

Leukocyte beta-glucosidase in homozygotes and heterozygotes for Gaucher disease

artículo científico publicado en 1980

Long-term hematological, visceral, and growth outcomes in children with Gaucher disease type 3 treated with imiglucerase in the International Collaborative Gaucher Group Gaucher Registry

artículo científico publicado en 2016

MR imaging and proton spectroscopy of neuronal injury in late-onset GM2 gangliosidosis

artículo científico publicado en 2005

Management of neuronopathic Gaucher disease: revised recommendations

artículo científico publicado en 2009

Metabolic activities in human skin fibroblasts preloaded with labeled GM2-ganglioside.

artículo científico publicado en 1987

Metronomic breathing shows altered parasympathetic baroreflex function in untreated Fabry patients and baroreflex improvement after enzyme replacement therapy

artículo científico publicado en 2011

Miglustat in late-onset Tay-Sachs disease: a 12-month, randomized, controlled clinical study with 24 months of extended treatment

artículo científico publicado en 2009

Mitochondrial encephalomyopathies presenting with features of autonomic and visceral dysfunction

artículo científico publicado en 1996

Molecular basis of late-life globoid cell leukodystrophy

artículo científico publicado en 1999

Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy

artículo científico publicado en 1996

Neuronopathic Gaucher disease: demographic and clinical features of 131 patients enrolled in the International Collaborative Gaucher Group Neurological Outcomes Subregistry

artículo científico publicado en 2010

Nonuniform deficiency of hexosaminidase A in tissues and fluids of two unrelated individuals

scientific article published on 01 March 1982

Patent Foramen Ovale and Cryptogenic Strokes in the Stroke in Young Fabry Patients Study

artículo científico publicado en 2016

Pathology of GM2 Gangliosidosis in Jacob Sheep ⬇️

artículo científico publicado el 1 de diciembre de 2010

Phenotypic Spectrum of Hematological and Visceral Disease in Type 3 Gaucher Disease and Response to Imiglucerase Therapy: Preliminary Analysis from the ICGG Gaucher Registry

artículo científico publicado en 2012

Phenotypic manifestations of Gaucher disease: clinical features in 48 biochemically verified type 1 patients and comment on type 2 patients

artículo científico publicado el 1 de enero de 1982

Rapid detection of the two common mutations in Ashkenazi Jewish patients with mucolipidosis type IV.

artículo científico publicado en 2001

Rapid detection of three large novel deletions of the aspartoacylase gene in non-Jewish patients with Canavan disease

scientific article published on 18 July 2006

Re: Neurocognitive testing in late-onset Tay-Sachs disease: a pilot study

artículo científico publicado en 2009

Reduced cerebral blood flow velocity and impaired cerebral autoregulation in patients with Fabry disease.

artículo científico publicado en 2004

Roscoe Owen Brady, MD: Remembrances of co-investigators and colleagues

artículo científico publicado en 2016

Spontaneous appearance of Tay-Sachs disease in an animal model

artículo científico publicado en 2008

Substitution of Alanine543 with a Threonine Residue at the Carboxy Terminal End of the β-Chain Is Associated with Thermolabile Hexosaminidase B in a Jewish Family of Oriental Ancestry

artículo científico publicado en 1995

Tay-Sachs disease in Jacob sheep ⬇️

artículo científico publicado el 14 de agosto de 2010

Therapeutic effects of astrocytes expressing both tyrosine hydroxylase and brain-derived neurotrophic factor on a rat model of Parkinson's disease

artículo científico publicado en 2002

Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher Registry.

artículo científico publicado en 2017

Two abnormalities of hexosaminidase A in clinically normal individuals.

artículo científico publicado en 1986

Very long chain acyl-CoA dehydrogenase deficiency in a pair of mildly affected monozygotic twin sister in their late fifties

artículo científico publicado en 2007

Lista de obras de Edwin Hillel Kolodny

A Human Kidney cDNA Which Induces a Cell Surface Protein Epitope Recognized by a Monoclonal Antibody against Galactosylceramide

A neurological symptom survey of patients with type I Gaucher disease

Acute cerebrovascular disease in the young: the Stroke in Young Fabry Patients study

Acute confusional migraine may be a presenting feature of CADASIL.

Anderson-Fabry disease: extrarenal, neurologic manifestations

Antisulfatide IgG Antibodies Recognize HIV Proteins ⬇️

Bone marrow-derived mesenchymal stem cells remain host-derived despite successful hematopoietic engraftment after allogeneic transplantation in patients with lysosomal and peroxisomal storage diseases

CNS pathology and vascular/circulatory abnormalities in Fabry disease

Cerebrovascular involvement in Fabry disease: current status of knowledge

Correction of the galactocerebrosidase deficiency in globoid cell leukodystrophy-cultured cells by SL3-3 retroviral-mediated gene transfer

Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry

Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations

Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase).

Enzyme replacement therapy improves cardiovascular responses to orthostatic challenge in Fabry patients

Fabry disease - underestimated in the differential diagnosis of multiple sclerosis?

Familial spastic paraparesis. Is it a mitochondrial disorder?

Family History in Young Patients With Stroke

Frequency of MELAS main mutation in a phenotype-targeted young ischemic stroke patient population

G(M2)-ganglioside metabolism in situ in mucolipidosis IV fibroblasts

GM1-gangliosidosis in American black bears: clinical, pathological, biochemical and molecular genetic characterization

GM2 gangliosidosis in British Jacob sheep.

GM2-ganglioside metabolism in cultured human skin fibroblasts: unambiguous diagnosis of GM2-gangliosidosis

GM2-ganglioside metabolism in hexosaminidase A deficiency states: determination in situ using labeled GM2 added to fibroblast cultures

Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients

Gaucher disease: Basic and translational science needs for more complete therapy and management

Globoid cell leukodystrophy (Krabbe disease): normal umbilical cord blood galactocerebrosidase activity and polymorphic mutations

Headache as a symptom at stroke onset in 4,431 young ischaemic stroke patients. Results from the "Stroke in Young Fabry Patients (SIFAP1) study".

Hippocampal atrophy as a surrogate of neuronal involvement in Fabry disease ⬇️

Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease

In vivo and in vitro glioma cell killing induced by an adenovirus expressing both cytosine deaminase and thymidine kinase and its association with interferon-alpha

Isolation and characterization of the normal canine beta-galactosidase gene and its mutation in a dog model of GM1-gangliosidosis

Juvenile-onset motor neuron disease caused by novel mutations in β-hexosaminidase ⬇️

Late-onset GM2 gangliosidosis: Ashkenazi Jewish family with an exon 5 mutation (Tyr180-->His) in the Hex A alpha-chain gene

Late-onset Tay-Sachs disease

Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients

Late-onset Tay-Sachs disease: the spectrum of peripheral neuropathy in 30 affected patients

Lessons from everyday stroke care for clinical research and vice versa: comparison of a comprehensive and a research population of young stroke patients

Leukocyte beta-glucosidase in homozygotes and heterozygotes for Gaucher disease

Long-term hematological, visceral, and growth outcomes in children with Gaucher disease type 3 treated with imiglucerase in the International Collaborative Gaucher Group Gaucher Registry

MR imaging and proton spectroscopy of neuronal injury in late-onset GM2 gangliosidosis

Management of neuronopathic Gaucher disease: revised recommendations

Metabolic activities in human skin fibroblasts preloaded with labeled GM2-ganglioside.

Metronomic breathing shows altered parasympathetic baroreflex function in untreated Fabry patients and baroreflex improvement after enzyme replacement therapy

Miglustat in late-onset Tay-Sachs disease: a 12-month, randomized, controlled clinical study with 24 months of extended treatment

Mitochondrial encephalomyopathies presenting with features of autonomic and visceral dysfunction

Molecular basis of late-life globoid cell leukodystrophy

Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy

Neuronopathic Gaucher disease: demographic and clinical features of 131 patients enrolled in the International Collaborative Gaucher Group Neurological Outcomes Subregistry

Nonuniform deficiency of hexosaminidase A in tissues and fluids of two unrelated individuals

Patent Foramen Ovale and Cryptogenic Strokes in the Stroke in Young Fabry Patients Study

Pathology of GM2 Gangliosidosis in Jacob Sheep ⬇️

Phenotypic Spectrum of Hematological and Visceral Disease in Type 3 Gaucher Disease and Response to Imiglucerase Therapy: Preliminary Analysis from the ICGG Gaucher Registry

Phenotypic manifestations of Gaucher disease: clinical features in 48 biochemically verified type 1 patients and comment on type 2 patients

Rapid detection of the two common mutations in Ashkenazi Jewish patients with mucolipidosis type IV.

Rapid detection of three large novel deletions of the aspartoacylase gene in non-Jewish patients with Canavan disease

Re: Neurocognitive testing in late-onset Tay-Sachs disease: a pilot study

Reduced cerebral blood flow velocity and impaired cerebral autoregulation in patients with Fabry disease.

Roscoe Owen Brady, MD: Remembrances of co-investigators and colleagues

Spontaneous appearance of Tay-Sachs disease in an animal model

Substitution of Alanine543 with a Threonine Residue at the Carboxy Terminal End of the β-Chain Is Associated with Thermolabile Hexosaminidase B in a Jewish Family of Oriental Ancestry

Tay-Sachs disease in Jacob sheep ⬇️

Therapeutic effects of astrocytes expressing both tyrosine hydroxylase and brain-derived neurotrophic factor on a rat model of Parkinson's disease

Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher Registry.

Two abnormalities of hexosaminidase A in clinically normal individuals.

Very long chain acyl-CoA dehydrogenase deficiency in a pair of mildly affected monozygotic twin sister in their late fifties