Brady Ro

National Institutes of Health — United States

Medicine · Health Sciences

22h-index2.2kcitations59works0.02yr avg
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Research Topics

Lysosomal Storage Disorders Research(33), Metabolism and Genetic Disorders(12), Cellular transport and secretion(6), Trypanosoma species research and implications(6), CRISPR and Genetic Engineering(5)

Publications59 total

A new severity score index for phenotypic classification and evaluation of responses to treatment in type I Gaucher disease
Haematologica·2008· 62 citedOpen Access
Gaucher and Fabry diseases: from understanding pathophysiology to rational therapies
Acta Paediatrica·2003· 13 cited
Commentary
Journal of Inherited Metabolic Disease·2001· 2 cited
Identical mutations in different families with Fabry disease are usually due to different mutation events
Research at the University of Copenhagen (University of Copenhagen)·2001
A bicistronic therapeutic retroviral vector enables sorting of transduced CD34+ cells and corrects the enzyme deficiency in cells from Gaucher patients
Blood·1996
A bicistronic therapeutic retroviral vector enables sorting of transduced CD34+ cells and corrects the enzyme deficiency in cells from Gaucher patients
Blood·1996· 52 citedOpen Access
High-level production of recombinant human lysosomal acid alpha-glucosidase in Chinese hamster ovary cells which targets to heart muscle and corrects glycogen accumulation in fibroblasts from patients with Pompe disease.
Proceedings of the National Academy of Sciences·1996· 106 citedOpen Access
Outcome of partial splenectomy for type I Gaucher disease
The Journal of Pediatrics·1995· 56 cited
Pyridoxine‐responsive hyper‐β‐alaninemia associated with Cohen's syndrome
Neurology·1994· 17 cited
Enzyme Replacement Therapy for Gaucher Disease: Critical Investigations beyond Demonstration of Clinical Efficacy
Biochemical Medicine and Metabolic Biology·1994· 35 cited
Isolated horizontal supranuclear gaze palsy as a marker of severe systemic involvement in Gaucher's disease
Neurology·1993· 139 cited
Treatment of Gaucher's disease.
PubMed·1993· 40 cited
The effect of cholesterol‐lowering agents on hepatic and plasma cholesterol in Niemann‐Pick disease type C
Neurology·1993· 107 cited
A clinical staging classification for type C Niemann‐Pick disease
Neurology·1992· 80 cited
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP syndrome)
Neurology·1992· 104 cited
Correction of glucocerebrosidase deficiency after retroviral-mediated gene transfer into hematopoietic progenitor cells from patients with Gaucher disease.
Proceedings of the National Academy of Sciences·1990· 89 citedOpen Access
Tetrahydrobiopterin administration in biopterin‐deflcient progressive dystonia with diurnal variation
Neurology·1989· 30 cited
Clinical spectrum of Niemann‐Pick disease type C
Neurology·1989· 159 cited
Comparison of the chromosomal localization of murine and human glucocerebrosidase genes and of the deduced amino acid sequences.
Proceedings of the National Academy of Sciences·1989· 52 citedOpen Access
Cholesteryl ester storage disease: a patient with massive splenomegaly and splenic abscess.
PubMed·1988· 18 cited
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Frequent Co-authors

Norman W. Barton(10), P. G. Pentchev(5), Barranger Ja(5), Marc C. Patterson(4), Peter G. Pentchev(3), John K. Fink(3), Joseph Higgins(3), С. И. Рапопорт(3), Pentchev Pg(3), Fausta Omodeo‐Salè(2), A. Pikus(2), Christine R. Kaneski(2), Raphael Schiffmann(2), Charles E. Argoff(2), James M. Dambrosia(2), Philip C. Guzzetta(2), Ginns Ei(2), J. N. Kanfer(1), Michael B. Mock(1), Donald S. Fredrickson(1)