Joel Charrow

  • 6466 Citations
1978 …2019
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Research Output 1978 2019

2019

Addendum to Letter to the Editor: Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1

Mistry, P. K., Balwani, M., Baris, H. N., Turkia, H. B., Burrow, T. A., Charrow, J., Cox, G. F., Danda, S., Dragosky, M., Drelichman, G., El-Beshlawy, A., Fraga, C., Freisens, S., Gaemers, S., Hadjiev, E., Kishnani, P. S., Lukina, E., Maison-Blanche, P., Martins, A. M., Pastores, G. & 6 others, Petakov, M., Peterschmitt, M. J., Rosenbaum, H., Rosenbloom, B., Underhill, L. H. & Cox, T. M., Jul 1 2019, In : Blood Cells, Molecules, and Diseases. 77, p. 101-102 2 p.

Research output: Contribution to journalLetter

Gaucher Disease
Safety
Therapeutics
eliglustat

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

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
2 Citations (Scopus)

Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1

Mistry, P. K., Balwani, M., Baris, H. N., Turkia, H. B., Burrow, T. A., Charrow, J., Cox, G. F., Danda, S., Dragosky, M., Drelichman, G., El-Beshlawy, A., Fraga, C., Freisens, S., Gaemers, S., Hadjiev, E., Kishnani, P. S., Lukina, E., Maison-Blanche, P., Martins, A. M., Pastores, G. & 6 others, Petakov, M., Peterschmitt, M. J., Rosenbaum, H., Rosenbloom, B., Underhill, L. H. & Cox, T. M., Jul 1 2018, In : Blood Cells, Molecules, and Diseases. 71, p. 71-74 4 p.

Research output: Contribution to journalLetter

Gaucher Disease
Safety
Therapeutics
eliglustat
9 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
6 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
30 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
4 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
5 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
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
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
32 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
121 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
19 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
17 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
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
8 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
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
1 Citation (Scopus)
Propionic Acidemia
Inborn Errors Metabolism
Acidosis
Cardiopulmonary Bypass
Postoperative Period
63 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
116 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
2014
1 Citation (Scopus)

Erratum: Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment (Journal of Inherited Metabolic Disease (2013) 36 (543-553) DOI 10.1007/s10545-012-9528-4)

Weinreb, N. J., Goldblatt, J., Villalobos, J., Charrow, J., Cole, J. A., Kerstenetzky, M., Vom Dahl, S. & Hollak, C., Jan 1 2014, In : Journal of inherited metabolic disease. 37, 1, 1 p.

Research output: Contribution to journalComment/debate

Gaucher Disease
Metabolic Diseases
imiglucerase
13 Citations (Scopus)

Gender as a disease modifier in neurofibromatosis type 1 optic pathway glioma

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., D'Agostino McGowan, L. & Liu, G. T., Jan 1 2014, In : Annals of Neurology. 75, 5, p. 799-800 2 p.

Research output: Contribution to journalLetter

Optic Nerve Glioma
Neurofibromatosis 1
Learning Disorders
Vision Disorders
2013
49 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
8 Citations (Scopus)
Butyryl-CoA Dehydrogenase
Growth and Development
Newborn Infant
Mutation
Isobutyryl-CoA dehydrogenase deficiency
54 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
43 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

The Neurofibromatoses

Listernick, RL. & Charrow, J., 2012, Fitzpatrick’s Dermatology in General Medicine. Goldsmith, LA., Katz, SI., Gilchrest, BA., Paller, AS., Leffell, DJ. & Wolff, K. (eds.). New York: McGraw-Hill, p. 1680-1690

Research output: Chapter in Book/Report/Conference proceedingChapter

125 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
14 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