AAAAAA

   
Results: 1-10 |
Results: 10
LATE-ONSET VERY LONG-CHAIN ACYL-COENZYME-A DEHYDROGENASE-DEFICIENCY -CASE-REPORT AND REVIEW OF LITERATURE
Authors: FRIEDMAN NR KORSON MS DARRAS BT
Citation: Nr. Friedman et al., LATE-ONSET VERY LONG-CHAIN ACYL-COENZYME-A DEHYDROGENASE-DEFICIENCY -CASE-REPORT AND REVIEW OF LITERATURE, Annals of neurology, 44(3), 1998, pp. 31-31
REVERSAL OF SEVERE HYPERTROPHIC CARDIOMYOPATHY AND EXCELLENT NEUROPSYCHOLOGIC OUTCOME IN VERY-LONG-CHAIN ACYL-COENZYME-A DEHYDROGENASE-DEFICIENCY
Authors: COX GF SOURI M AOYAMA T ROCKENMACHER S VARVOGLI L ROHR F HASHIMOTO T KORSON MS
Citation: Gf. Cox et al., REVERSAL OF SEVERE HYPERTROPHIC CARDIOMYOPATHY AND EXCELLENT NEUROPSYCHOLOGIC OUTCOME IN VERY-LONG-CHAIN ACYL-COENZYME-A DEHYDROGENASE-DEFICIENCY, The Journal of pediatrics, 133(2), 1998, pp. 247-253
INADEQUATE LABORATORY TECHNIQUE FOR AMINO-ACID-ANALYSIS RESULTING IN MISSED DIAGNOSES OF HOMOCYSTINURIA
Authors: SMITH KL BRADLEY L LEVY HL KORSON MS
Citation: Kl. Smith et al., INADEQUATE LABORATORY TECHNIQUE FOR AMINO-ACID-ANALYSIS RESULTING IN MISSED DIAGNOSES OF HOMOCYSTINURIA, Clinical chemistry, 44(4), 1998, pp. 897-898
PERIOPERATIVE WHITE-MATTER DEGENERATION AND DEATH IN A PATIENT WITH ADEFECT IN MITOCHONDRIAL OXIDATIVE-PHOSPHORYLATION
Authors: CASTA A QUACKENBUSH EJ HOUCK CS KORSON MS
Citation: A. Casta et al., PERIOPERATIVE WHITE-MATTER DEGENERATION AND DEATH IN A PATIENT WITH ADEFECT IN MITOCHONDRIAL OXIDATIVE-PHOSPHORYLATION, Anesthesiology, 87(2), 1997, pp. 420-425
OXIDATIVE-PHOSPHORYLATION DEFECT ASSOCIATED WITH PRIMARY ADRENAL INSUFFICIENCY
Authors: NORTH K KORSON MS KRAWIECKI N SHOFFNER JM HOLM IA
Citation: K. North et al., OXIDATIVE-PHOSPHORYLATION DEFECT ASSOCIATED WITH PRIMARY ADRENAL INSUFFICIENCY, The Journal of pediatrics, 128(5), 1996, pp. 688-692
CLINICAL APPROACH TO GENETIC CARDIOMYOPATHY IN CHILDREN
Authors: SCHWARTZ ML COX GF LIN AE KORSON MS PEREZATAYDE A LACRO RV LIPSHULTZ SE
Citation: Ml. Schwartz et al., CLINICAL APPROACH TO GENETIC CARDIOMYOPATHY IN CHILDREN, Circulation, 94(8), 1996, pp. 2021-2038
BILATERAL INFANTILE CATARACTOGENESIS IN A PATIENT WITH DEFICIENCY OF COMPLEX-I, A MITOCHONDRIAL ELECTRON-TRANSPORT CHAIN ENZYME
Authors: CIULLA TA NORTH K MCCABE O ANTHONY DC KORSON MS PETERSEN RA
Citation: Ta. Ciulla et al., BILATERAL INFANTILE CATARACTOGENESIS IN A PATIENT WITH DEFICIENCY OF COMPLEX-I, A MITOCHONDRIAL ELECTRON-TRANSPORT CHAIN ENZYME, Journal of pediatric ophthalmology and strabismus, 32(6), 1995, pp. 378-382
LETHAL NEONATAL DEFICIENCY OF CARNITINE PALMITOYLTRANSFERASE-II ASSOCIATED WITH DYSGENESIS OF THE BRAIN AND KIDNEYS
Authors: NORTH KN HOPPEL CL DEGIROLAMI U KOZAKEWICH HPW KORSON MS
Citation: Kn. North et al., LETHAL NEONATAL DEFICIENCY OF CARNITINE PALMITOYLTRANSFERASE-II ASSOCIATED WITH DYSGENESIS OF THE BRAIN AND KIDNEYS, The Journal of pediatrics, 127(3), 1995, pp. 414-420
NEONATAL-ONSET PROPIONIC ACIDEMIA - NEUROLOGIC AND DEVELOPMENTAL PROFILES, AND IMPLICATIONS FOR MANAGEMENT
Authors: NORTH KN KORSON MS GOPAL YR ROHR FJ BRAZELTON TB WAISBREN SE WARMAN ML
Citation: Kn. North et al., NEONATAL-ONSET PROPIONIC ACIDEMIA - NEUROLOGIC AND DEVELOPMENTAL PROFILES, AND IMPLICATIONS FOR MANAGEMENT, The Journal of pediatrics, 126(6), 1995, pp. 916-922
A MISSENSE MUTATION (1278T) IN THE CYSTATHIONINE BETA-SYNTHASE GENE PREVALENT IN PYRIDOXINE-RESPONSIVE HOMOCYSTINURIA, AND ASSOCIATED WITH MILD CLINICAL PHENOTYPE
Authors: SHIH VE FRINGER JM MANDELL R KRAUS JP BERRY GT HEIDENREICH RA KORSON MS LEVY HL RAMESH V
Citation: Ve. Shih et al., A MISSENSE MUTATION (1278T) IN THE CYSTATHIONINE BETA-SYNTHASE GENE PREVALENT IN PYRIDOXINE-RESPONSIVE HOMOCYSTINURIA, AND ASSOCIATED WITH MILD CLINICAL PHENOTYPE, American journal of human genetics, 57(1), 1995, pp. 34-39
Risultati: 1-10 |