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Results: 1-16 |
Results: 16
VARIABLE CLINICAL PRESENTATION IN 3 PATIENTS WITH 3-METHYLGLUTACONYL-COENZYME-A HYDRATASE DEFICIENCY
Authors: GIBSON KM WAPPNER RS JOOSTE S ERASMUS E MIENIE LJ GERLO E DESPRECHINS B DEMEIRLEIR L
Citation: Km. Gibson et al., VARIABLE CLINICAL PRESENTATION IN 3 PATIENTS WITH 3-METHYLGLUTACONYL-COENZYME-A HYDRATASE DEFICIENCY, Journal of inherited metabolic disease, 21(6), 1998, pp. 631-638
MOLECULAR CHARACTERIZATION OF PYRUVATE-CARBOXYLASE DEFICIENCY IN 2 CONSANGUINEOUS FAMILIES
Authors: WEXLER ID KERR DS DU YF KAUNG MM STEPHENSON W LUSK MM WAPPNER RS HIGGINS JJ
Citation: Id. Wexler et al., MOLECULAR CHARACTERIZATION OF PYRUVATE-CARBOXYLASE DEFICIENCY IN 2 CONSANGUINEOUS FAMILIES, Pediatric research, 43(5), 1998, pp. 579-584
GAUCHER-DISEASE - RECOMMENDATIONS ON DIAGNOSIS, EVALUATION, AND MONITORING
Authors: CHARROW J ESPLIN JA GRIBBLE TJ KAPLAN P KOLODNY EH PASTORES GM SCOT CR WAPPNER RS WEINREB NJ WISCH JS
Citation: J. Charrow et al., GAUCHER-DISEASE - RECOMMENDATIONS ON DIAGNOSIS, EVALUATION, AND MONITORING, Archives of internal medicine, 158(16), 1998, pp. 1754-1760
PRENATAL-DIAGNOSIS OF MITOCHONDRIAL FATTY-ACID OXIDATION DEFECTS
Authors: NADA MA VIANEYSABAN C ROE CR DING JH MATHIEU M WAPPNER RS BIALER MG MCGLYNN JA MANDON G
Citation: Ma. Nada et al., PRENATAL-DIAGNOSIS OF MITOCHONDRIAL FATTY-ACID OXIDATION DEFECTS, Prenatal diagnosis, 16(2), 1996, pp. 117-124
HEALTH SUPERVISION FOR CHILDREN WITH MARFAN-SYNDROME
Authors: DESPOSITO F CHO S FRIAS JL SHERMAN J WAPPNER RS WILSON MG DELACRUZ F HANSON JW LINFU J MCDONOUGH PG PLETCHER BA PYERITZ RE SEASHORE MR
Citation: F. Desposito et al., HEALTH SUPERVISION FOR CHILDREN WITH MARFAN-SYNDROME, Pediatrics, 98(5), 1996, pp. 978-982
HEALTH SUPERVISION FOR CHILDREN WITH SICKLE-CELL DISEASES AND THEIR FAMILIES
Authors: DESPOSITO F CHO SC FRIAS JL SHERMAN J WAPPNER RS WILSON MG DELACRUZ F HANSON JW LINFU J MCDONOUGH PG OAKLEY G PLETCHER BA
Citation: F. Desposito et al., HEALTH SUPERVISION FOR CHILDREN WITH SICKLE-CELL DISEASES AND THEIR FAMILIES, Pediatrics, 98(3), 1996, pp. 467-472
NEWBORN SCREENING FACT SHEETS
Authors: DESPOSITO F CHO SC FRIAS JL SHERMAN J WAPPNER RS WILSON MG DELACRUZ F HANSON JW LINFU JM MCDONOUGH PG OAKLEY G PLETCHER BA SEASHORE MR
Citation: F. Desposito et al., NEWBORN SCREENING FACT SHEETS, Pediatrics, 98(3), 1996, pp. 473-501
HEALTH SUPERVISION FOR CHILDREN WITH FRAGILE-X SYNDROME
Authors: DESPOSITO F CHO S FRIAS JL SHERMAN J WAPPNER RS WILSON MG
Citation: F. Desposito et al., HEALTH SUPERVISION FOR CHILDREN WITH FRAGILE-X SYNDROME, Pediatrics, 98(2), 1996, pp. 297-300
ACCELERATION OF RETARDED GROWTH IN CHILDREN WITH GAUCHER DISEASE AFTER TREATMENT WITH ALGLUCERASE
Authors: KAPLAN P MAZUR A MANOR O CHARROW J ESPLIN J GRIBBLE TJ WAPPNER RS WISCH JS WEINREB NJ
Citation: P. Kaplan et al., ACCELERATION OF RETARDED GROWTH IN CHILDREN WITH GAUCHER DISEASE AFTER TREATMENT WITH ALGLUCERASE, The Journal of pediatrics, 129(1), 1996, pp. 149-153
CHIARI-I MALFORMATION - ASSOCIATION WITH HYPOPHOSPHATEMIC RICKETS ANDMR-IMAGING APPEARANCE
Authors: CALDEMEYER KS BOAZ JC WAPPNER RS MORAN CC SMITH RR QUETS JP
Citation: Ks. Caldemeyer et al., CHIARI-I MALFORMATION - ASSOCIATION WITH HYPOPHOSPHATEMIC RICKETS ANDMR-IMAGING APPEARANCE, Radiology, 195(3), 1995, pp. 733-738
HEALTH SUPERVISION FOR CHILDREN WITH TURNER SYNDROME
Authors: SEASHORE MR CHO S DESPOSITO F SHERMAN J WAPPNER RS WILSON MG
Citation: Mr. Seashore et al., HEALTH SUPERVISION FOR CHILDREN WITH TURNER SYNDROME, Pediatrics, 96(6), 1995, pp. 1166-1173
HEALTH SUPERVISION FOR CHILDREN WITH NEUROFIBROMATOSIS
Authors: SEASHORE MR CHO SC DESPOSITO F SHERMAN J WAPPNER RS WILSON MG DELACRUZ F HANSON JW LINFU J MCDONOUGH PG OAKLEY G PLETCHER BA
Citation: Mr. Seashore et al., HEALTH SUPERVISION FOR CHILDREN WITH NEUROFIBROMATOSIS, Pediatrics, 96(2), 1995, pp. 368-372
HEALTH SUPERVISION FOR CHILDREN WITH ACHONDROPLASIA
Authors: SEASHORE MR CHO S DESPOSITO F SHERMAN J WAPPNER RS WILSON MG DELACRUZ F HANSON JW LINFU J MCDONOUGH P OAKLEY G PLETCHER BA HALL JG
Citation: Mr. Seashore et al., HEALTH SUPERVISION FOR CHILDREN WITH ACHONDROPLASIA, Pediatrics, 95(3), 1995, pp. 443-451
PRENATAL GENETIC DIAGNOSIS FOR PEDIATRICIANS
Authors: SEASHORE MR CHO SC DESPOSITO F SHERMAN J WAPPNER RS WILSON MG
Citation: Mr. Seashore et al., PRENATAL GENETIC DIAGNOSIS FOR PEDIATRICIANS, Pediatrics, 93(6), 1994, pp. 1010-1015
HEALTH SUPERVISION FOR CHILDREN WITH DOWN-SYNDROME
Authors: SEASHORE MR CHO SC DESPOSITO F SHERMAN J WAPPNER RS WILSON MG
Citation: Mr. Seashore et al., HEALTH SUPERVISION FOR CHILDREN WITH DOWN-SYNDROME, Pediatrics, 93(5), 1994, pp. 855-859
BIOCHEMICAL-DIAGNOSIS OF GENETIC-DISEASES
Authors: WAPPNER RS
Citation: Rs. Wappner, BIOCHEMICAL-DIAGNOSIS OF GENETIC-DISEASES, Pediatric annals, 22(5), 1993, pp. 282
Risultati: 1-16 |