Joel Charrow

  • 6466 Citations
1978 …2019
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Research Output 1978 2019

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Review article
2019

Cervical spinal cord compression in infants with achondroplasia: should neuroimaging be routine?

Sanders, V. R., Sheldon, S. H. & Charrow, J., Feb 1 2019, In : Genetics in Medicine. 21, 2, p. 459-463 5 p.

Research output: Contribution to journalReview article

Achondroplasia
Spinal Cord Compression
Neuroimaging
Cervical Cord
Magnetic Resonance Imaging
2016
22 Citations (Scopus)

Recommendations for the use of eliglustat in the treatment of adults with Gaucher disease type 1 in the United States

Balwani, M., Burrow, T. A., Charrow, J., Goker-Alpan, O., Kaplan, P., Kishnani, P. S., Mistry, P., Ruskin, J. & Weinreb, N., Feb 1 2016, In : Molecular Genetics and Metabolism. 117, 2, p. 95-103 9 p.

Research output: Contribution to journalReview article

Gaucher Disease
Glucosidases
Glucosylceramides
ceramide glucosyltransferase
Therapeutics
2015
18 Citations (Scopus)

Diagnostic evaluation, monitoring, and perioperative management of spinal cord compression in patients with Morquio syndrome

Charrow, J., Alden, T. D., Breathnach, C. A. R., Frawley, G. P., Hendriksz, C. J., Link, B., Mackenzie, W. G., Manara, R., Offiah, A. C., Solano, M. L. & Theroux, M., Jan 1 2015, In : Molecular Genetics and Metabolism. 114, 1, p. 11-18 8 p.

Research output: Contribution to journalReview article

N-acetylglucosamine-6-sulfatase
Mucopolysaccharidosis IV
Spinal Cord Compression
Galactosamine
Compaction
24 Citations (Scopus)

Long-term treatment outcomes in Gaucher disease

Charrow, J. & Scott, C. R., Jan 1 2015, In : American Journal of Hematology. 90, S1, p. S19-S24

Research output: Contribution to journalReview article

Gaucher Disease
Enzyme Replacement Therapy
Therapeutics
Osteonecrosis
Organ Size
2012
8 Citations (Scopus)
Butyryl-CoA Dehydrogenase
Growth and Development
Newborn Infant
Mutation
Isobutyryl-CoA dehydrogenase deficiency
2009
23 Citations (Scopus)

Enzyme replacement therapy for Gaucher disease

Charrow, J., Jan 1 2009, In : Expert Opinion on Biological Therapy. 9, 1, p. 121-131 11 p.

Research output: Contribution to journalReview article

Lysosomal Storage Diseases
Enzyme Replacement Therapy
Gaucher Disease
Glucosylceramidase
Placenta
2007

A 3 year old with obesity and hypotonia

Charrow, J., Jan 1 2007, In : Pediatric annals. 36, 5, p. 284-286 3 p.

Research output: Contribution to journalReview article

Prader-Willi Syndrome
Muscle Hypotonia
Preschool Children
Obesity

This issue: Case challenges in genetics

Charrow, J., May 1 2007, In : Pediatric Annals. 36, 5, p. 252-253 2 p.

Research output: Contribution to journalReview article

Inborn Genetic Diseases
Medical Genetics
Pediatrics
2006

An 11-year-old girl with multiple hyperpigmented macules

Charrow, J., Jan 1 2006, In : Pediatric Annals. 35, 5, p. 325-328 4 p.

Research output: Contribution to journalReview article

Neurofibroma
Neurofibromatosis 1
2005
74 Citations (Scopus)

Guidance on the use of miglustat for treating patients with type 1 Gaucher disease

Weinreb, N. J., Barranger, J. A., Charrow, J., Grabowski, G. A., Mankin, H. J. & Mistry, P., Nov 1 2005, In : American Journal of Hematology. 80, 3, p. 223-229 7 p.

Research output: Contribution to journalReview article

Gaucher Disease
Enzymes
ceramide glucosyltransferase
Imino Sugars
Bone Diseases
99 Citations (Scopus)

Individualization of long-term enzyme replacement therapy for Gaucher disease

Andersson, H. C., Charrow, J., Kaplan, P., Mistry, P., Pastores, G. M., Prakesh-Cheng, A., Rosenbloom, B. E., Scott, C. R., Wappner, R. S. & Weinreb, N. J., Feb 1 2005, In : Genetics in Medicine. 7, 2, p. 105-110 6 p.

Research output: Contribution to journalReview article

Enzyme Replacement Therapy
Gaucher Disease
Maintenance
Glucosylceramidase
Social Adjustment
2004
89 Citations (Scopus)

Enzyme replacement therapy and monitoring for children with type 1 gaucher disease: Consensus recommendations

Charrow, J., Andersson, H. C., Kaplan, P., Kolodny, E. H., Mistry, P., Pastores, G., Prakash-Cheng, A., Rosenbloom, B. E., Scott, C. R., Wappner, R. S. & Weinreb, N. J., Jan 1 2004, In : Journal of Pediatrics. 144, 1, p. 112-120 9 p.

Research output: Contribution to journalReview article

Enzyme Replacement Therapy
Gaucher Disease
9 Citations (Scopus)

Neurofibromatosis-1 in childhood

Listernick, R. H. & Charrow, J., Dec 1 2004, In : Advances in dermatology. 20, p. 75-115 41 p.

Research output: Contribution to journalReview article

Neurofibromatosis 1
2002

An infant with seizures and acidosis

Listernick, R., Unti, S., Burton, B., Nordli, D., Sullivan, J., Cohn, R. & Charrow, J., Sep 1 2002, In : Pediatric Annals. 31, 9

Research output: Contribution to journalReview article

MELAS Syndrome
Failure to Thrive
Lactic Acidosis
Genetic Counseling
Acidosis
1998
123 Citations (Scopus)

Gaucher disease: Recommendations on diagnosis, evaluation, and monitoring

Charrow, J., Esplin, J. A., Gribble, T. J., Kaplan, P., Kolodny, E. H., Pastores, G. M., Scott, C. R., Wappner, R. S., Weinreb, N. J. & Wisch, J. S., Sep 14 1998, In : Archives of Internal Medicine. 158, 16, p. 1754-1760 7 p.

Research output: Contribution to journalReview article

Gaucher Disease
Enzyme Replacement Therapy
Blood Cell Count
Physiologic Monitoring
Femur
1987
21 Citations (Scopus)

Uncombable hair (pili trianguli et canaliculi): Evidence for dominant inheritance with complete penetrance based on scanning electron microscopy

Hebert, A. A., Charrow, J., Esterly, N. B. & Fretzin, D. F., Jan 1 1987, In : American Journal of Medical Genetics. 28, 1, p. 185-193 9 p.

Research output: Contribution to journalReview article

Penetrance
Electron Scanning Microscopy
Hair
Fathers
Siblings