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Results: 1-12 |
Results: 12
ABNORMALITIES IN POLYUNSATURATED FATTY-ACIDS IN PEROXISOMAL BIFUNCTIONAL ENZYME DEFICIENCY
Authors: SOTO EG THEDA C MOSER AB MOSER HW RAYMOND GV
Citation: Eg. Soto et al., ABNORMALITIES IN POLYUNSATURATED FATTY-ACIDS IN PEROXISOMAL BIFUNCTIONAL ENZYME DEFICIENCY, American journal of human genetics, 61(4), 1997, pp. 1459-1459
PEROXISOMAL BIFUNCTIONAL ENZYME DEFICIENCY - AN ATYPICAL PRESENTATION
Authors: RAYMOND GV SOTO EG THEDA C MOSER AB MOSER HW
Citation: Gv. Raymond et al., PEROXISOMAL BIFUNCTIONAL ENZYME DEFICIENCY - AN ATYPICAL PRESENTATION, American journal of human genetics, 61(4), 1997, pp. 1512-1512
CLASSICAL GALACTOSEMIA IN PREMATURE MONOZYGOTIC TWINS
Authors: THEDA C SOTO EG MCHARGUE L ALPAN G
Citation: C. Theda et al., CLASSICAL GALACTOSEMIA IN PREMATURE MONOZYGOTIC TWINS, American journal of human genetics, 61(4), 1997, pp. 2321-2321
NEURONAL MIGRATION ABNORMALITY IN PEROXISOMAL BIFUNCTIONAL ENZYME DEFECT
Authors: KAUFMANN WE THEDA C NAIDU S WATKINS PA MOSER AB MOSER HW
Citation: We. Kaufmann et al., NEURONAL MIGRATION ABNORMALITY IN PEROXISOMAL BIFUNCTIONAL ENZYME DEFECT, Annals of neurology, 39(2), 1996, pp. 268-271
NOVEL FGFR2 MUTATIONS IN CROUZON AND JACKSON-WEISS SYNDROMES SHOW ALLELIC HETEROGENEITY AND PHENOTYPIC VARIABILITY
Authors: PARK WJ MEYERS GA LI X THEDA C DAY D ORLOW SJ JONES MC JABS EW
Citation: Wj. Park et al., NOVEL FGFR2 MUTATIONS IN CROUZON AND JACKSON-WEISS SYNDROMES SHOW ALLELIC HETEROGENEITY AND PHENOTYPIC VARIABILITY, Human molecular genetics, 4(7), 1995, pp. 1229-1233
FORMATION OF THE PEROXISOME LUMEN IS ABOLISHED BY LOSS OF PICHIA-PASTORIS PAS7P, A ZINC-BINDING INTEGRAL MEMBRANE-PROTEIN OF THE PEROXISOME
Authors: KALISH JE THEDA C MORRELL JC BERG JM GOULD SJ
Citation: Je. Kalish et al., FORMATION OF THE PEROXISOME LUMEN IS ABOLISHED BY LOSS OF PICHIA-PASTORIS PAS7P, A ZINC-BINDING INTEGRAL MEMBRANE-PROTEIN OF THE PEROXISOME, Molecular and cellular biology, 15(11), 1995, pp. 6406-6419
PHENOTYPIC FEATURES AND FGFR2 MUTATIONS IN APERT SYNDROME
Authors: THEDA C PARK WJ MAESTRI NE MEYERS GA FRYBURG JS DUFRESNE C COHEN MM JABS EW
Citation: C. Theda et al., PHENOTYPIC FEATURES AND FGFR2 MUTATIONS IN APERT SYNDROME, American journal of human genetics, 57(4), 1995, pp. 96-96
ANALYSIS OF PHENOTYPIC FEATURES AND FGFR2 MUTATIONS IN APERT SYNDROME
Authors: PARK WJ THEDA C MAESTRI NE MEYERS GA FRYBURG JS DUFRESNE C COHEN MM JABS EW
Citation: Wj. Park et al., ANALYSIS OF PHENOTYPIC FEATURES AND FGFR2 MUTATIONS IN APERT SYNDROME, American journal of human genetics, 57(2), 1995, pp. 321-328
PAS7 - A GENE ESSENTIAL FOR PEROXISOME ASSEMBLY
Authors: THEDA C MORRELL JC KALISH J GOULD SJ
Citation: C. Theda et al., PAS7 - A GENE ESSENTIAL FOR PEROXISOME ASSEMBLY, Pediatric research, 35(4), 1994, pp. 10000154-10000154
DIET THERAPY FOR ADRENOLEUKODYSTROPHY IN ASYMPTOMATIC PATIENTS USING LORENZO OIL
Authors: THEDA C MOSER HW
Citation: C. Theda et Hw. Moser, DIET THERAPY FOR ADRENOLEUKODYSTROPHY IN ASYMPTOMATIC PATIENTS USING LORENZO OIL, Pediatric research, 35(4), 1994, pp. 10000388-10000388
DIETARY THERAPY OF ADRENOLEUKODYSTROPHY - PRELIMINARY-RESULTS OF A LONG-TERM STUDY
Authors: THEDA C KOHLER W MOSER A MOSER H
Citation: C. Theda et al., DIETARY THERAPY OF ADRENOLEUKODYSTROPHY - PRELIMINARY-RESULTS OF A LONG-TERM STUDY, Monatsschrift fur Kinderheilkunde, 142(11), 1994, pp. 850-856
INCREASED VERY LONG-CHAIN FATTY-ACIDS IN PATIENTS ON A KETOGENIC DIET- A CAUSE OF DIAGNOSTIC CONFUSION
Authors: THEDA C WOODY RC NAIDU S MOSER AB MOSER HW
Citation: C. Theda et al., INCREASED VERY LONG-CHAIN FATTY-ACIDS IN PATIENTS ON A KETOGENIC DIET- A CAUSE OF DIAGNOSTIC CONFUSION, The Journal of pediatrics, 122(5), 1993, pp. 724-726
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