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Long-term Improvements in Lifespan and Pathology in CNS and PNS After BMT Plus One Intravenous Injection of AAVrh10-GALC in Twitcher Mice

Molecular therapy, 2015-11, Vol.23 (11), p.1681-1690

2015

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Krabbe disease: One Hundred years from the bedside to the bench to the bedside

Journal of neuroscience research, 2016-11, Vol.94 (11), p.982-989

2016

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Rare Saposin A deficiency: Novel variant and psychosine analysis

Molecular genetics and metabolism, 2020-02, Vol.129 (2), p.161-164

2020

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Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease

Orphanet journal of rare diseases, 2018-02, Vol.13 (1), p.30-30, Article 30

2018

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Early progression of Krabbe disease in patients with symptom onset between 0 and 5 months

Orphanet journal of rare diseases, 2019-02, Vol.14 (1), p.46-46, Article 46

2019

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Extended Normal Life After AAVrh10-mediated Gene Therapy in the Mouse Model of Krabbe Disease

Molecular therapy, 2012-11, Vol.20 (11), p.2031-2042

2012

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Newborn screening for Krabbe disease in New York State: the first eight years’ experience

Genetics in medicine, 2016-03, Vol.18 (3), p.239-248

2016

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Enzyme replacement therapy of a novel humanized mouse model of globoid cell leukodystrophy

Experimental neurology, 2015-09, Vol.271, p.36-45

2015

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Pericardial Fat and Right Ventricular Morphology: The Multi-Ethnic Study of Atherosclerosis- Right Ventricle Study (MESA-RV)

PloS one, 2016-06, Vol.11 (6), p.e0157654-e0157654

2016

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Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State

Genetics in medicine, 2016-12, Vol.18 (12), p.1235-1243

2016

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Conditions for combining gene therapy with bone marrow transplantation in murine Krabbe disease

Bioimpacts, 2020-01, Vol.10 (2), p.105-115

2020

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Can early treatment of twitcher mice with high dose AAVrh10-GALC eliminate the need for BMT?

Bioimpacts, 2021-01, Vol.11 (2), p.135-146

2021

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Advances in the Diagnosis and Treatment of Krabbe Disease

International journal of neonatal screening, 2021-08, Vol.7 (3), p.57

2021

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Idealismus und Recht: Gerechtigkeit, Berechenbarkeit und Rhetorik

Wenger, David

1, 2011

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Transplantation of Umbilical-Cord Blood in Babies with Infantile Krabbe's Disease

The New England journal of medicine, 2005-05, Vol.352 (20), p.2069-2081

2005

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Krabbe disease: Are certain mutations disease-causing only when specific polymorphisms are present or when inherited in trans with specific second mutations?

Molecular genetics and metabolism, 2014-03, Vol.111 (3), p.307-308

2014

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The Lysosomal Diseases Testing Laboratory: A review of the past 47 years

JIMD reports, 2020-07, Vol.54 (1), p.61-67

2020

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Intravenous injection of AAVrh10-GALC after the neonatal period in twitcher mice results in significant expression in the central and peripheral nervous systems and improvement of clinical features

Molecular genetics and metabolism, 2015-03, Vol.114 (3), p.459-466

2015

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Chemical mutagenesis of a GPCR ligand: Detoxifying “inflammo-attraction” to direct therapeutic stem cell migration

Proceedings of the National Academy of Sciences - PNAS, 2020-12, Vol.117 (49), p.31177-31188

2020

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Lysosomal storage disease spectrum in nonimmune hydrops fetalis: a retrospective case control study

Prenatal diagnosis, 2020-05, Vol.40 (6), p.738-745

2020

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“Muddy-Brown Bronchoalveolar Lavage” A Pathognomonic Finding in Respiratory Bronchiolitis-Associated Interstitial Lung Disease?

Chest, 2016-10, Vol.150 (4), p.522A-522A

2016

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Consensus recommendations for the classification and long-term follow up of infants who screen positive for Krabbe Disease

Molecular genetics and metabolism, 2021-09, Vol.134 (1-2), p.53-59

2021

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Expression of individual mutations and haplotypes in the galactocerebrosidase gene identified by the newborn screening program in New York State and in confirmed cases of Krabbe's disease

Journal of neuroscience research, 2016-11, Vol.94 (11), p.1076-1083

2016

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Quantifying ventilation by X-ray velocimetry in healthy adults

Respiratory research, 2023-08, Vol.24 (1), p.215-215, Article 215

2023

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Sixteen novel mutations in the arylsulfatase A gene causing metachromatic leukodystrophy

Gene, 2013-11, Vol.530 (2), p.323-328

2013

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Long-term Improvements in Lifespan and Pathology in CNS and PNS After BMT Plus One Intravenous Injection of AAVrh10-GALC in Twitcher Mice

Krabbe disease: One Hundred years from the bedside to the bench to the bedside

Rare Saposin A deficiency: Novel variant and psychosine analysis

Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease

Early progression of Krabbe disease in patients with symptom onset between 0 and 5 months

Extended Normal Life After AAVrh10-mediated Gene Therapy in the Mouse Model of Krabbe Disease

Newborn screening for Krabbe disease in New York State: the first eight years’ experience

Enzyme replacement therapy of a novel humanized mouse model of globoid cell leukodystrophy

Pericardial Fat and Right Ventricular Morphology: The Multi-Ethnic Study of Atherosclerosis- Right Ventricle Study (MESA-RV)

Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State

Conditions for combining gene therapy with bone marrow transplantation in murine Krabbe disease

Can early treatment of twitcher mice with high dose AAVrh10-GALC eliminate the need for BMT?

Advances in the Diagnosis and Treatment of Krabbe Disease

Idealismus und Recht: Gerechtigkeit, Berechenbarkeit und Rhetorik

Transplantation of Umbilical-Cord Blood in Babies with Infantile Krabbe's Disease

Krabbe disease: Are certain mutations disease-causing only when specific polymorphisms are present or when inherited in trans with specific second mutations?

The Lysosomal Diseases Testing Laboratory: A review of the past 47 years

Intravenous injection of AAVrh10-GALC after the neonatal period in twitcher mice results in significant expression in the central and peripheral nervous systems and improvement of clinical features

Chemical mutagenesis of a GPCR ligand: Detoxifying “inflammo-attraction” to direct therapeutic stem cell migration

Lysosomal storage disease spectrum in nonimmune hydrops fetalis: a retrospective case control study

“Muddy-Brown Bronchoalveolar Lavage” A Pathognomonic Finding in Respiratory Bronchiolitis-Associated Interstitial Lung Disease?

Consensus recommendations for the classification and long-term follow up of infants who screen positive for Krabbe Disease

Expression of individual mutations and haplotypes in the galactocerebrosidase gene identified by the newborn screening program in New York State and in confirmed cases of Krabbe's disease

Quantifying ventilation by X-ray velocimetry in healthy adults

Sixteen novel mutations in the arylsulfatase A gene causing metachromatic leukodystrophy

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