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Results: 1-11 |
Results: 11
Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: Results of a phase I/II clinical trial
Authors: Amalfitano, A Bengur, AR Morse, RP Majure, JM Case, LE Veerling, DL Mackey, J Kishnani, P Smith, W McVie-Wylie, A Sullivan, JA Hoganson, GE Phillips, JA Schaefer, GB Charrow, J Ware, RE Bossen, EH Chen, YT
Citation: A. Amalfitano et al., Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: Results of a phase I/II clinical trial, GENET MED, 3(2), 2001, pp. 132-138
Early speech delay and hepatitis as presenting signs of homocystinuria
Authors: Mack, CL Emerick, KM Kovarik, P Charrow, J
Citation: Cl. Mack et al., Early speech delay and hepatitis as presenting signs of homocystinuria, J PED GASTR, 33(2), 2001, pp. 221-223
Comments on neurofibromatosis 1 and optic pathway tumors
Authors: Listernick, R Charrow, J Gutmann, DH
Citation: R. Listernick et al., Comments on neurofibromatosis 1 and optic pathway tumors, AM J MED G, 102(1), 2001, pp. 105-105
Neural tube defects and the 13q deletion syndrome: Evidence for a criticalregion in 13q33-34
Authors: Luo, J Balkin, N Stewart, JF Sarwark, JF Charrow, J Nye, JS
Citation: J. Luo et al., Neural tube defects and the 13q deletion syndrome: Evidence for a criticalregion in 13q33-34, AM J MED G, 91(3), 2000, pp. 227-230
Myelocystocele-cloacal exstrophy in a pedigree with a mitochondrial 12S rRNA mutation, aminoglycoside-induced deafness, pigmentary disturbances, and spinal anomalies
Authors: Nye, JS Hayes, EA Amendola, M Vaughn, D Charrow, J McLone, DG Speer, MC Nance, WE Pandya, A
Citation: Js. Nye et al., Myelocystocele-cloacal exstrophy in a pedigree with a mitochondrial 12S rRNA mutation, aminoglycoside-induced deafness, pigmentary disturbances, and spinal anomalies, TERATOLOGY, 61(3), 2000, pp. 165-171
The Gaucher registry - Demographics and disease characteristics of 1698 patients with Gaucher disease
Authors: Charrow, J Andersson, HC Kaplan, P Kolodny, EH Mistry, P Pastores, G Rosenbloom, BE Scott, CR Wappner, RS Weinreb, NJ Zimran, A
Citation: J. Charrow et al., The Gaucher registry - Demographics and disease characteristics of 1698 patients with Gaucher disease, ARCH IN MED, 160(18), 2000, pp. 2835-2843
Carboplatin therapy for optic pathway tumors in children with neurofibromatosis type-1
Authors: Listernick, R Charrow, J Tomita, T Goldman, S
Citation: R. Listernick et al., Carboplatin therapy for optic pathway tumors in children with neurofibromatosis type-1, J NEURO-ONC, 45(2), 1999, pp. 185-190
Intracranial gliomas in neurofibromatosis type 1
Authors: Listernick, R Charrow, J Gutmann, DH
Citation: R. Listernick et al., Intracranial gliomas in neurofibromatosis type 1, AM J MED G, 89(1), 1999, pp. 38-44
Neural crest anomaly syndromes in children with spina bifida
Authors: Nye, JS McLone, DG Charrow, J Hayes, EA
Citation: Js. Nye et al., Neural crest anomaly syndromes in children with spina bifida, TERATOLOGY, 60(4), 1999, pp. 179-189
Gaucher disease - In reply
Authors: Charrow, J Esplin, JA Kaplan, P Kolodny, EH Pastores, GM Scott, CR Wappner, RS Weinreb, NJ Wisch, JS
Citation: J. Charrow et al., Gaucher disease - In reply, ARCH IN MED, 159(8), 1999, pp. 881-882
Recommendations for diagnosis, evaluation, and monitoring of patients withGaucher disease - In reply
Authors: Charrow, J Esplin, JA Kaplan, P Kolodny, EH Pastores, GM Scott, CR Wappner, RS Weinreb, NJ Wisch, JS
Citation: J. Charrow et al., Recommendations for diagnosis, evaluation, and monitoring of patients withGaucher disease - In reply, ARCH IN MED, 159(11), 1999, pp. 1255-1255
Risultati: 1-11 |