Joel Charrow

  • 6392 Citations
1978 …2019
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Research Output 1978 2019

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2019

C-type natriuretic peptide analogue therapy in children with achondroplasia

Savarirayan, R., Irving, M., Bacino, C. A., Bostwick, B., Charrow, J., Cormier-Daire, V., Le Quan Sang, K. H., Dickson, P., Harmatz, P., Phillips, J., Owen, N., Cherukuri, A., Jayaram, K., Jeha, G. S., Larimore, K., Chan, M. L., Labed, A. H., Day, J. & Hoover-fong, J., Jul 4 2019, In : New England Journal of Medicine. 381, 1, p. 25-35 11 p.

Research output: Contribution to journalArticle

C-Type Natriuretic Peptide
Achondroplasia
Therapeutics
Osteogenesis
Growth
Plexiform Neurofibroma
Neurofibromatosis 1
Age Groups
Pain
Parents
1 Citation (Scopus)
Plexiform Neurofibroma
Neurofibromatosis 1
Nervous System Diseases
Information Systems
Quality of Life
2018
3 Citations (Scopus)

Once- versus twice-daily dosing of eliglustat in adults with Gaucher disease type 1: The Phase 3, randomized, double-blind EDGE trial

Charrow, J., Fraga, C., Gu, X., Ida, H., Longo, N., Lukina, E., Nonino, A., Gaemers, S. J. M., Jouvin, M. H., Li, J., Wu, Y., Xue, Y. & Peterschmitt, M. J., Mar 1 2018, In : Molecular Genetics and Metabolism. 123, 3, p. 347-356 10 p.

Research output: Contribution to journalArticle

Gaucher Disease
Platelets
Liver
Bone
Hemoglobins
6 Citations (Scopus)

Schaaf-Yang syndrome overview: Report of 78 individuals

McCarthy, J., Lupo, P. J., Kovar, E., Rech, M., Bostwick, B., Scott, D., Kraft, K., Roscioli, T., Charrow, J., Schrier Vergano, S. A., Lose, E., Smiegel, R., Lacassie, Y. & Schaaf, C. P., Dec 1 2018, In : American Journal of Medical Genetics, Part A. 176, 12, p. 2564-2574 11 p.

Research output: Contribution to journalArticle

Intellectual Disability
Prader-Willi Syndrome
Language Development
Frameshift Mutation
Inborn Genetic Diseases
5 Citations (Scopus)

β-Glucocerebrosidase Modulators Promote Dimerization of β-Glucocerebrosidase and Reveal an Allosteric Binding Site

Zheng, J., Chen, L., Skinner, O. S., Ysselstein, D., Remis, J., Lansbury, P., Skerlj, R., Mrosek, M., Heunisch, U., Krapp, S., Charrow, J., Schwake, M., Kelleher, N. L., Silverman, R. B. & Krainc, D., May 9 2018, In : Journal of the American Chemical Society. 140, 18, p. 5914-5924 11 p.

Research output: Contribution to journalArticle

Glucosylceramidase
Allosteric Site
Dimerization
Binding sites
Modulators
2017
1 Citation (Scopus)

Home infusion of intravenous velaglucerase alfa: Experience from pooled clinical studies in 104 patients with type 1 Gaucher disease

Elstein, D., Burrow, T. A., Charrow, J., Giraldo, P., Mehta, A., Pastores, G. M., Lee, H. M., Mellgard, B. & Zimran, A., Jan 1 2017, In : Molecular Genetics and Metabolism. 120, 1-2, p. 111-115 5 p.

Research output: Contribution to journalArticle

Gaucher Disease
Intravenous Infusions
Investigational Drugs
Labeling
Labels
26 Citations (Scopus)

Mutations in EFL1, an SBDS partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in a Shwachman-Diamond like syndrome

Stepensky, P., Chacón-Flores, M., Kim, K. H., Abuzaitoun, O., Bautista-Santos, A., Simanovsky, N., Siliqi, D., Altamura, D., Méndez-Godoy, A., Gijsbers, A., Eddin, A. N., Dor, T., Charrow, J., Sánchez-Puig, N. & Elpeleg, O., Aug 1 2017, In : Journal of medical genetics. 54, 8, p. 558-566 9 p.

Research output: Contribution to journalArticle

Exocrine Pancreatic Insufficiency
Pancytopenia
Eukaryotic Large Ribosome Subunits
Yeasts
Cytoplasm
28 Citations (Scopus)

Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience

Burton, B. K., Charrow, J., Hoganson, G. E., Waggoner, D., Tinkle, B., Braddock, S. R., Schneider, M., Grange, D. K., Nash, C., Shryock, H., Barnett, R., Shao, R., Basheeruddin, K. & Dizikes, G., Nov 1 2017, In : Journal of Pediatrics. 190, p. 130-135 6 p.

Research output: Contribution to journalArticle

Newborn Infant
Glycogen Storage Disease Type II
Mucopolysaccharidosis I
Fabry Disease
Gaucher Disease
3 Citations (Scopus)

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

Mistry, P. K., Batista, J. L., Andersson, H. C., Balwani, M., Burrow, T. A., Charrow, J., Kaplan, P., Khan, A., Kishnani, P. S., Kolodny, E. H., Rosenbloom, B., Scott, C. R. & Weinreb, N., Sep 1 2017, In : American Journal of Hematology. 92, 9, p. 929-939 11 p.

Research output: Contribution to journalArticle

Enzyme Replacement Therapy
Gaucher Disease
Registries
Bone and Bones
Splenectomy
10 Citations (Scopus)
Plexiform Neurofibroma
Neurofibromatosis 1
Parents
Pain
Quality of Life
2016
3 Citations (Scopus)

Carrier screening in the era of expanding genetic technology

Arjunan, A., Litwack, K., Collins, N. & Charrow, J., Dec 1 2016, In : Genetics in Medicine. 18, 12, p. 1214-1217 4 p.

Research output: Contribution to journalArticle

Technology
Mutation
Population
Trinucleotide Repeats
Family Planning Services
4 Citations (Scopus)
Neoplasms
Somatomedins
Growth Hormone
Therapeutics
Precocious Puberty
4 Citations (Scopus)
Neoplasms
Somatomedins
Growth Hormone
Therapeutics
Precocious Puberty
4 Citations (Scopus)

Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?

Morimoto, M., Myung, C., Beirnes, K., Choi, K., Asakura, Y., Bokenkamp, A., Bonneau, D., Brugnara, M., Charrow, J., Colin, E., Davis, A., Deschenes, G., Gentile, M., Giordano, M., Gormley, A. K., Govender, R., Joseph, M., Keller, K., Lerut, E., Levtchenko, E. & 11 others, Massella, L., Mayfield, C., Najafian, B., Parham, D., Spranger, J., Stenzel, P., Yis, U., Yu, Z., Zonana, J., Hendson, G. & Boerkoel, C. F., Nov 5 2016, In : Orphanet journal of rare diseases. 11, 1, p. 1-12 12 p.

Research output: Contribution to journalArticle

Kidney
Chromatin
Actins
Focal Segmental Glomerulosclerosis
Wnt Signaling Pathway
10 Citations (Scopus)

Long-term velaglucerase alfa treatment in children with Gaucher disease type 1 naïve to enzyme replacement therapy or previously treated with imiglucerase

Smith, L., Rhead, W., Charrow, J., Shankar, S. P., Bavdekar, A., Longo, N., Mardach, R., Harmatz, P., Hangartner, T., Lee, H. M., Crombez, E. & Pastores, G. M., Feb 1 2016, In : Molecular Genetics and Metabolism. 117, 2, p. 164-171 8 p.

Research output: Contribution to journalArticle

Enzyme Replacement Therapy
Gaucher Disease
Pediatrics
Enzymes
Bone
7 Citations (Scopus)

Risk factors for severe clinical events in male and female patients with Fabry disease treated with agalsidase beta enzyme replacement therapy: Data from the Fabry Registry

Hopkin, R. J., Cabrera, G., Charrow, J., Lemay, R., Martins, A. M., Mauer, M., Ortiz, A., Patel, M. R., Sims, K., Waldek, S., Warnock, D. G. & Wilcox, W. R., Sep 1 2016, In : Molecular Genetics and Metabolism. 119, 1-2, p. 151-159 9 p.

Research output: Contribution to journalArticle

Enzyme Replacement Therapy
Fabry Disease
Registries
Enzymes
Kidney
30 Citations (Scopus)

Time to treatment benefit for adult patients with Fabry disease receiving agalsidase β: Data from the Fabry Registry

Ortiz, A., Abiose, A., Bichet, D. G., Cabrera, G., Charrow, J., Germain, D. P., Hopkin, R. J., Jovanovic, A., Linhart, A., Maruti, S. S., Mauer, M., Oliveira, J. P., Patel, M. R., Politei, J., Waldek, S., Wanner, C., Yoo, H. W. & Warnock, D. G., Jul 1 2016, In : Journal of medical genetics. 53, 7, p. 495-502 8 p.

Research output: Contribution to journalArticle

Fabry Disease
Registries
Incidence
Therapeutics
Galactosidases
114 Citations (Scopus)

Treatment of Fabry's disease with the pharmacologic chaperone migalastat

Germain, D. P., Hughes, D. A., Nicholls, K., Bichet, D. G., Giugliani, R., Wilcox, W. R., Feliciani, C., Shankar, S. P., Ezgu, F., Amartino, H., Bratkovic, D., Feldt-Rasmussen, U., Nedd, K., Sharaf El Din, U., Lourenco, C. M., Banikazemi, M., Charrow, J., Dasouki, M., Finegold, D., Giraldo, P. & 20 others, Goker-Alpan, O., Longo, N., Scott, C. R., Torra, R., Tuffaha, A., Jovanovic, A., Waldek, S., Packman, S., Ludington, E., Viereck, C., Kirk, J., Yu, J., Benjamin, E. R., Johnson, F., Lockhart, D. J., Skuban, N., Castelli, J., Barth, J., Barlow, C. & Schiffmann, R., Aug 11 2016, In : New England Journal of Medicine. 375, 6, p. 545-555 11 p.

Research output: Contribution to journalArticle

Fabry Disease
Galactosidases
Therapeutics
Placebos
Glomerular Filtration Rate
17 Citations (Scopus)

Triheptanoin treatment in patients with pediatric cardiomyopathy associated with long chain-fatty acid oxidation disorders

Vockley, J., Charrow, J., Ganesh, J., Eswara, M., Diaz, G. A., McCracken, E., Conway, R., Enns, G. M., Starr, J., Wang, R., Abdenur, J. E., Sanchez-de-Toledo, J. & Marsden, D. L., Nov 1 2016, In : Molecular Genetics and Metabolism. 119, 3, p. 223-231 9 p.

Research output: Contribution to journalArticle

Pediatrics
Cardiomyopathies
Fatty Acids
Oxidation
Therapeutics
2015
16 Citations (Scopus)

Antiproteinuric therapy and Fabry nephropathy: Factors associated with preserved kidney function during agalsidase-beta therapy

Warnock, D. G., Thomas, C. P., Vujkovac, B., Campbell, R. C., Charrow, J., Laney, D. A., Jackson, L. L., Wilcox, W. R. & Wanner, C., Jan 1 2015, In : Journal of Medical Genetics. 52, 12, p. 860-866 7 p.

Research output: Contribution to journalArticle

Kidney
Creatinine
Urine
Glomerular Filtration Rate
Fabry Disease
7 Citations (Scopus)

Genetics Professionals’ Opinions of Whole-Genome Sequencing in the Newborn Period

Ulm, E., Feero, W. G., Dineen, R., Charrow, J. & Wicklund, C. A., Jun 18 2015, In : Journal of Genetic Counseling. 24, 3, p. 452-463 12 p.

Research output: Contribution to journalArticle

Newborn Infant
Genome
Disclosure
Genomics
Counseling
1 Citation (Scopus)
Propionic Acidemia
Inborn Errors Metabolism
Acidosis
Cardiopulmonary Bypass
Postoperative Period
60 Citations (Scopus)

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Snijders Blok, L., Madsen, E., Juusola, J., Gilissen, C., Baralle, D., Reijnders, M. R. F., Venselaar, H., Helsmoortel, C., Cho, M. T., Hoischen, A., Vissers, L. E. L. M., Koemans, T. S., Wissink-Lindhout, W., Eichler, E. E., Romano, C., Van Esch, H., Stumpel, C., Vreeburg, M., Smeets, E., Oberndorff, K. & 65 others, Van Bon, B. W. M., Shaw, M., Gecz, J., Haan, E., Bienek, M., Jensen, C., Loeys, B. L., Van Dijck, A., Innes, A. M., Racher, H., Vermeer, S., Di Donato, N., Rump, A., Tatton-Brown, K., Parker, M. J., Henderson, A., Lynch, S. A., Fryer, A., Ross, A., Vasudevan, P., Kini, U., Newbury-Ecob, R., Chandler, K., Male, A., Dijkstra, S., Schieving, J., Giltay, J., Van gassen, K. L. I., Schuurs-Hoeijmakers, J., Tan, P. L., Pediaditakis, I., Haas, S. A., Retterer, K., Reed, P., Monaghan, K. G., Haverfield, E., Natowicz, M., Myers, A., Kruer, M. C., Stein, Q., Strauss, K. A., Brigatti, K. W., Keating, K., Burton, B. K., Kim, K. H., Charrow, J., Norman, J., Foster-Barber, A., Kline, A. D., Kimball, A., Zackai, E., Harr, M., Fox, J., McLaughlin, J., Lindstrom, K., Haude, K. M., Van Roozendaal, K., Brunner, H., Chung, W. K., Kooy, R. F., Pfundt, R., Kalscheuer, V., Mehta, S. G., Katsanis, N. & Kleefstra, T., Aug 6 2015, In : American Journal of Human Genetics. 97, 2, p. 343-352 10 p., 1916.

Research output: Contribution to journalArticle

Intellectual Disability
Mutation
X-Linked Genes
Exome
Sexism
22 Citations (Scopus)

Safety and efficacy of alternative alglucosidase alfa regimens in Pompe disease

Case, L. E., Bjartmar, C., Morgan, C., Casey, R., Charrow, J., Clancy, J. P., Dasouki, M., DeArmey, S., Nedd, K., Nevins, M., Peters, H., Phillips, D., Spigelman, Z., Tifft, C. & Kishnani, P. S., Apr 1 2015, In : Neuromuscular Disorders. 25, 4, p. 321-332 12 p.

Research output: Contribution to journalArticle

Glycogen Storage Disease Type II
Enzyme Replacement Therapy
Safety
human GAA protein
Rare Diseases
8 Citations (Scopus)

Safety and efficacy results of switch from imiglucerase to velaglucerase alfa treatment in patients with type 1 Gaucher disease

Elstein, D., Mehta, A., Hughes, D. A., Giraldo, P., Charrow, J., Smith, L., Shankar, S. P., Hangartner, T. N., Kunes, Y., Wang, N., Crombez, E. & Zimran, A., Jul 1 2015, In : American Journal of Hematology. 90, 7, p. 592-597 6 p.

Research output: Contribution to journalArticle

Gaucher Disease
Safety
Enzyme Replacement Therapy
Therapeutics
Platelet Count

Storage and use of Newborn Screening Blood Specimens for Research: Assessing Public Opinion in Illinois

Hart, A., Petros, M., Charrow, J., Nash, C. & Wicklund, C. A., Jun 18 2015, In : Journal of Genetic Counseling. 24, 3, p. 482-490 9 p.

Research output: Contribution to journalArticle

Public Opinion
Newborn Infant
Research
Genetic Privacy
Surveys and Questionnaires
3 Citations (Scopus)

Strabismus in patients with neurofibromatosis type 1-associated optic pathway glioma

Parness-Yossifon, R., Listernick, R. H., Charrow, J., Barto, H. & Lasky, J., Oct 1 2015, In : Journal of AAPOS. 19, 5, p. 422-425 4 p., 2272.

Research output: Contribution to journalArticle

Optic Nerve Glioma
Neurofibromatosis 1
Strabismus
Exotropia
Esotropia
107 Citations (Scopus)

Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with fabry disease

Germain, D. P., Charrow, J., Desnick, R. J., Guffon, N., Kempf, J., Lachmann, R. H., Lemay, R., Linthorst, G. E., Packman, S., Ronald Scott, C., Waldek, S., Warnock, D. G., Weinreb, N. J. & Wilcox, W. R., Jan 1 2015, In : Journal of medical genetics. 52, 5, p. 353-358 6 p.

Research output: Contribution to journalArticle

Enzyme Replacement Therapy
Fabry Disease
Kidney
Galactosidases
Therapeutics
2013
47 Citations (Scopus)

Algorithm for the Early Diagnosis and Treatment of Patients with Cross Reactive Immunologic Material-Negative Classic Infantile Pompe Disease: A Step towards Improving the Efficacy of ERT

Banugaria, S. G., Prater, S. N., Patel, T. T., DeArmey, S. M., Milleson, C., Sheets, K. B., Bali, D. S., Rehder, C. W., Raiman, J. A. J., Wang, R. A., Labarthe, F., Charrow, J., Harmatz, P., Chakraborty, P., Rosenberg, A. S. & Kishnani, P. S., Jun 25 2013, In : PloS one. 8, 6, e67052.

Research output: Contribution to journalArticle

Glycogen Storage Disease Type II
Enzyme Replacement Therapy
early diagnosis
Early Diagnosis
Immune Tolerance
36 Citations (Scopus)

Analysis of left ventricular mass in untreated men and in men treated with agalsidase-β: Data from the Fabry Registry

Germain, D. P., Weidemann, F., Abiose, A., Patel, M. R., Cizmarik, M., Cole, J. A., Beitner-Johnson, D., Benistan, K., Cabrera, G., Charrow, J., Kantola, I., Linhart, A., Nicholls, K., Niemann, M., Scott, C. R., Sims, K., Waldek, S., Warnock, D. G. & Strotmann, J., Dec 1 2013, In : Genetics in Medicine. 15, 12, p. 958-965 8 p.

Research output: Contribution to journalArticle

Registries
Left Ventricular Hypertrophy
Fabry Disease
Odds Ratio
Galactosidases
73 Citations (Scopus)

Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment

Weinreb, N. J., Goldblatt, J., Villalobos, J., Charrow, J., Cole, J. A., Kerstenetzky, M., Vom Dahl, S. & Hollak, C., Jan 1 2013, In : Journal of inherited metabolic disease. 36, 3, p. 543-553 11 p.

Research output: Contribution to journalArticle

Gaucher Disease
Bone and Bones
Platelet Count
Hemoglobins
Therapeutics
35 Citations (Scopus)

Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase

Zimran, A., Pastores, G. M., Tylki-Szymanska, A., Hughes, D. A., Elstein, D., Mardach, R., Eng, C., Smith, L., Heisel-Kurth, M., Charrow, J., Harmatz, P., Fernhoff, P., Rhead, W., Longo, N., Giraldo, P., Ruiz, J. A., Zahrieh, D., Crombez, E. & Grabowski, G. A., Mar 1 2013, In : American Journal of Hematology. 88, 3, p. 172-178 7 p.

Research output: Contribution to journalArticle

Gaucher Disease
Safety
Nasopharyngitis
Glucosylceramidase
Enzyme Replacement Therapy
2012
16 Citations (Scopus)

Dental Abnormalities in Schimke Immuno-osseous Dysplasia

Morimoto, M., Kérourédan, O., Gendronneau, M., Shuen, C., Baradaran-Heravi, A., Asakura, Y., Basiratnia, M., Bogdanović, R., Bonneau, D., Buck, A., Charrow, J., Cochat, P., Dehaai, K. A., Fenkçi, M. S., Frange, P., Fründ, S., Fryssira, H., Keller, K., Kirmani, S., Kobelka, C. & 16 others, Kohler, K., Lewis, D. B., Massella, L., Mcleod, D. R., Milford, D. V., Nobili, F., Olney, A. H., Semerci, C. N., Stajić, N., Stein, A., Taque, S., Zonana, J., Lücke, T., Hendson, G., Bonnaure-Mallet, M. & Boerkoel, C. F., Jan 1 2012, In : Journal of Dental Research. 91, p. S29-S37

Research output: Contribution to journalArticle

Tooth Abnormalities
Tooth
Anodontia
DNA Helicases
Mutation
53 Citations (Scopus)

Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfa

Van der Ploeg, A. T., Barohn, R., Carlson, L., Charrow, J., Clemens, P. R., Hopkin, R. J., Kishnani, P. S., Laforêt, P., Morgan, C., Nations, S., Pestronk, A., Plotkin, H., Rosenbloom, B. E., Sims, K. B. & Tsao, E., Nov 1 2012, In : Molecular Genetics and Metabolism. 107, 3, p. 456-461 6 p.

Research output: Contribution to journalArticle

Labels
Glucosidases
Therapeutics
Vital Capacity
Durability
42 Citations (Scopus)

Persistence of high sustained antibodies to enzyme replacement therapy despite extensive immunomodulatory therapy in an infant with Pompe disease: Need for agents to target antibody-secreting plasma cells

Banugaria, S. G., Patel, T. T., Mackey, J., Das, S., Amalfitano, A., Rosenberg, A. S., Charrow, J., Chen, Y. T. & Kishnani, P. S., Apr 1 2012, In : Molecular Genetics and Metabolism. 105, 4, p. 677-680 4 p.

Research output: Contribution to journalArticle

Glycogen Storage Disease Type II
Enzyme Replacement Therapy
Antibody-Producing Cells
Immunomodulation
Plasma Cells
18 Citations (Scopus)

Reduced elastogenesis: A clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

Morimoto, M., Yu, Z., Stenzel, P., Clewing, J. M., Najafian, B., Mayfield, C., Hendson, G., Weinkauf, J. G., Gormley, A. K., Parham, D. M., Ponniah, U., André, J. L., Asakura, Y., Basiratnia, M., Bogdanović, R., Bokenkamp, A., Bonneau, D., Buck, A., Charrow, J., Cochat, P. & 27 others, Cordeiro, I., Deschenes, G., Fenkçi, M. S., Frange, P., Fründ, S., Fryssira, H., Guillen-Navarro, E., Keller, K., Kirmani, S., Kobelka, C., Lamfers, P., Levtchenko, E., Lewis, D. B., Massella, L., McLeod, D. R., Milford, D. V., Nobili, F., Saraiva, J. M., Semerci, C. N., Shoemaker, L., Stajić, N., Stein, A., Taha, D., Wand, D., Zonana, J., Lücke, T. & Boerkoel, C. F., Sep 25 2012, In : Orphanet journal of rare diseases. 7, 1, 70.

Research output: Contribution to journalArticle

Arteriosclerosis
Elastin
Chromatin
Actins
Emphysema
124 Citations (Scopus)

Visual outcomes in children with neurofibromatosis type 1-associated optic pathway glioma following chemotherapy: A multicenter retrospective analysis

Fisher, M. J., Loguidice, M., Gutmann, D. H., Listernick, R. H., Ferner, R. E., Ullrich, N. J., Packer, R. J., Tabori, U., Hoffman, R. O., Ardern-Holmes, S. L., Hummel, T. R., Hargrave, D. R., Bouffet, E., Charrow, J., Bilaniuk, L. T., Balcer, L. J. & Liu, G. T., Jun 1 2012, In : Neuro-oncology. 14, 6, p. 790-797 8 p.

Research output: Contribution to journalArticle

Optic Nerve Glioma
Neurofibromatosis 1
Visual Acuity
Drug Therapy
Therapeutics
2011
13 Citations (Scopus)

Fanconi-Bickel syndrome: Report of life history and successful pregnancy in an affected patient

Pena, L. & Charrow, J., Feb 1 2011, In : American Journal of Medical Genetics, Part A. 155, 2, p. 415-417 3 p.

Research output: Contribution to journalArticle

Fanconi Syndrome
Reproductive History
Glucose Intolerance
Hepatomegaly
Metabolic Bone Diseases
21 Citations (Scopus)
Neurofibromatosis 1
Precocious Puberty
Growth Hormone
Neoplasms
Hypothalamic Neoplasms
7 Citations (Scopus)
Facial Neoplasms
Gustatory Sweating
Plexiform Neurofibroma
Neurofibromatosis 1
Preschool Children
2010
17 Citations (Scopus)

Episodic myoglobinuria in a primary gamma-sarcoglycanopathy

Pena, L., Kim, K. H. & Charrow, J., May 1 2010, In : Neuromuscular Disorders. 20, 5, p. 337-339 3 p.

Research output: Contribution to journalArticle

Myoglobinuria
Limb-Girdle Muscular Dystrophies
Sarcoglycans
Muscles
Rhabdomyolysis
40 Citations (Scopus)

Neurofibromatosis type 1 and high-grade tumors of the central nervous system

Rosenfeld, A., Listernick, R. H., Charrow, J. & Goldman, S., May 1 2010, In : Child's Nervous System. 26, 5, p. 663-667 5 p.

Research output: Contribution to journalArticle

Central Nervous System Neoplasms
Neurofibromatosis 1
Neoplasms
Central Nervous System
Inborn Genetic Diseases
2009
7 Citations (Scopus)

A 14-year-old boy with pain in hands and feet

Charrow, J., Jul 13 2009, In : Pediatric Annals. 38, 4, p. 190-192 3 p.

Research output: Contribution to journalArticle

alpha-Galactosidase
Fabry Disease
Foot
Hand
Pain
78 Citations (Scopus)

Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1

Grabowski, G. A., Kacena, K., Cole, J. A., Hollak, C. E. M., Zhang, L., Yee, J., Mistry, P. K., Zimran, A., Charrow, J. & Vom Dahl, S., Feb 1 2009, In : Genetics in Medicine. 11, 2, p. 92-100 9 p.

Research output: Contribution to journalArticle

Enzyme Therapy
Enzyme Replacement Therapy
Gaucher Disease
Propensity Score
Registries
20 Citations (Scopus)

Population-based Tay-Sachs screening among Ashkenazi Jewish young adults in the 21st century: Hexosaminidase A enzyme assay is essential for accurate testing

Schneider, A., Nakagawa, S., Keep, R., Dorsainville, D., Charrow, J., Aleck, K., Hoffman, J., Minkoff, S., Finegold, D., Sun, W., Spencer, A., Lebow, J., Zhan, J., Apfelroth, S., Schreiber-Agus, N. & Gross, S., Nov 1 2009, In : American Journal of Medical Genetics, Part A. 149, 11, p. 2444-2447 4 p.

Research output: Contribution to journalArticle

Hexosaminidase A
Tay-Sachs Disease
Enzyme Assays
Young Adult
Blood Platelets
17 Citations (Scopus)

Vitamin B12 status, methylmalonic acidemia, and bacterial overgrowth in short bowel syndrome

Sentongo, T. A., Azzam, R. & Charrow, J., Apr 1 2009, In : Journal of pediatric gastroenterology and nutrition. 48, 4, p. 495-497 3 p.

Research output: Contribution to journalArticle

Methylmalonic Acid
Short Bowel Syndrome
Vitamin B 12 Deficiency
Vitamin B 12
Acidosis
2008
4 Citations (Scopus)

Documented transient third-degree atrioventricular block and asystole in a child with familial dysautonomia

Rotstein, A., Charrow, J. & Deal, B., Jan 1 2008, In : Pediatric Cardiology. 29, 1, p. 202-204 3 p.

Research output: Contribution to journalArticle

Familial Dysautonomia
Ambulatory Electrocardiography
Atrioventricular Block
Heart Arrest
Primary Dysautonomias
1 Citation (Scopus)

Neuroimaging findings in children with rare or novel de novo chromosomal anomalies

Epstein, L. G., Jalali, A., Chary, A. N., Khan, S., Ross, J., Coppinger, J., Carlson, K., Charrow, J., Burton, B. K., Zimmerman, D., Curran, J., Kim, F., Nguyen, P., Burrowes, D., Angle, B., Stack, C. V., Shaffer, L., Kessler, J. & Bassuk, A. G., Apr 1 2008, In : Birth Defects Research Part A - Clinical and Molecular Teratology. 82, 4, p. 200-210 11 p.

Research output: Contribution to journalArticle

Neuroimaging
Genetic Association Studies
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Loci
Databases
2007

A 5-year-old girl with developmental delay

Charrow, J., Jan 1 2007, In : Pediatric Annals. 36, 9

Research output: Contribution to journalArticle

Multiple Abnormalities
Chromosome Deletion
Developmental Disabilities
Preschool Children