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Results:
1-23
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Results: 23
Authors:
IBDAH JA
TEIN I
DIONISIVICI C
BENNETT MJ
IJLST L
GIBSON B
WANDERS RJA
STRAUSS AW
Citation: Ja. Ibdah et al., MILD TRIFUNCTIONAL PROTEIN-DEFICIENCY IS ASSOCIATED WITH PROGRESSIVE NEUROPATHY AND MYOPATHY AND SUGGESTS A NOVEL GENOTYPE-PHENOTYPE CORRELATION, The Journal of clinical investigation, 102(6), 1998, pp. 1193-1199
Authors:
DEVIVO DC
BOHAN TP
COULTER DL
DREIFUSS FE
GREENWOOD RS
NORDLI DR
SHIELDS D
STAFSTROM CE
TEIN I
Citation: Dc. Devivo et al., L-CARNITINE SUPPLEMENTATION IN CHILDHOOD EPILEPSY - CURRENT PERSPECTIVES, Epilepsia, 39(11), 1998, pp. 1216-1225
Authors:
LAMHONWAH AM
TEIN I
Citation: Am. Lamhonwah et I. Tein, CARNITINE UPTAKE DEFECT - FRAMESHIFT MUTATIONS IN THE HUMAN PLASMALEMMAL CARNITINE TRANSPORTER GENE, Biochemical and biophysical research communications (Print), 252(2), 1998, pp. 396-401
Authors:
TEIN I
HASLAM RHA
RHEAD WJ
BENNETT MJ
VOCKLEY J
Citation: I. Tein et al., SHORT-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY IN CULTURED FIBROBLASTS- NEW CAUSE FOR PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, CATARACTS, CARDIOMYOPATHY, AND MULTICORE MYOPATHY, Annals of neurology, 42(3), 1997, pp. 53-53
Authors:
TEIN I
SEN A
KAUFMANN P
MCGARRY JD
DIMAURO S
Citation: I. Tein et al., MANIFESTING HETEROZYGOSITY IN CARNITINE PALMITOYL TRANSFERASE-II DEFICIENCY RESULTING FROM THE SER-113 LEU MUTATION, Annals of neurology, 42(3), 1997, pp. 61-61
Authors:
ELPELEG ON
SAADA AB
SHAAG A
GLUSTEIN JZ
RUITENBEEK W
TEIN I
HALEVY J
Citation: On. Elpeleg et al., LIPOAMIDE DEHYDROGENASE-DEFICIENCY - A NEW CAUSE FOR RECURRENT MYOGLOBINURIA, Muscle & nerve, 20(2), 1997, pp. 238-240
Authors:
PONS R
CARROZZO R
TEIN I
WALKER WF
ADDONIZIO LJ
RHEAD W
MIRANDA AF
DIMAURO S
DEVIVO DC
Citation: R. Pons et al., DEFICIENT MUSCLE CARNITINE TRANSPORT IN PRIMARY CARNITINE DEFICIENCY, Pediatric research, 42(5), 1997, pp. 583-587
Authors:
NOWACZYK MJM
SAUNDERS EF
TEIN I
BLASER SI
CLARKE JTR
Citation: Mjm. Nowaczyk et al., IMMUNOABLATION DOES NOT DELAY THE NEUROLOGIC PROGRESSION OF X-LINKED ADRENOLEUKODYSTROPHY, The Journal of pediatrics, 131(3), 1997, pp. 453-455
Authors:
MERANTE F
MYINT T
TEIN I
BENSON L
ROBINSON BH
Citation: F. Merante et al., AN ADDITIONAL MITOCHONDRIAL TRNA(ILE) POINT MUTATION (A-TO-G NUCLEOTIDE-4295) CAUSING HYPERTROPHIC CARDIOMYOPATHY, Human mutation, 8(3), 1996, pp. 216-222
Authors:
GEENEN C
TEIN I
EHRLICH RM
Citation: C. Geenen et al., ADDISONS-DISEASE PRESENTING WITH CEREBRAL EDEMA, Canadian journal of neurological sciences, 23(2), 1996, pp. 141-144
Authors:
TEIN I
XIE ZW
Citation: I. Tein et Zw. Xie, THE HUMAN PLASMALEMMAL CARNITINE TRANSPORTER DEFECT IS EXPRESSED IN CULTURED LYMPHOBLASTS - A NEW NONINVASIVE METHOD FOR DIAGNOSIS, Clinica chimica acta, 252(2), 1996, pp. 201-204
Authors:
TEIN I
BUKOVAC SW
XIE ZW
Citation: I. Tein et al., CHARACTERIZATION OF THE HUMAN PLASMALEMMAL CARNITINE TRANSPORTER IN CULTURED SKIN FIBROBLASTS, Archives of biochemistry and biophysics, 329(2), 1996, pp. 145-155
Authors:
TEIN I
SLOANE AE
DONNER EJ
LEHOTAY DC
MILLINGTON DS
KELLEY RI
Citation: I. Tein et al., FATTY-ACID OXIDATION ABNORMALITIES IN CHILDHOOD-ONSET SPINAL MUSCULAR-ATROPHY - PRIMARY OR SECONDARY DEFECT(S), Pediatric neurology, 12(1), 1995, pp. 21-30
Authors:
TEIN I
DONNER EJ
HALE DE
MURPHY EG
Citation: I. Tein et al., CLINICAL AND NEUROPHYSIOLOGIC RESPONSE OF MYOPATHY AND NEUROPATHY IN LONG-CHAIN L-3-HYDROXYACYL-COA DEHYDROGENASE-DEFICIENCY TO ORAL PREDNISONE, Pediatric neurology, 12(1), 1995, pp. 68-76
Authors:
TEIN I
DIMAURO S
XIE ZW
DEVIVO DC
Citation: I. Tein et al., HETEROZYGOTES FOR PLASMALEMMAL CARNITINE TRANSPORTER DEFECT ARE AT INCREASED RISK FOR VALPROIC ACID-ASSOCIATED IMPAIRMENT OF CARNITINE UPTAKE IN CULTURED HUMAN SKIN FIBROBLASTS, Journal of inherited metabolic disease, 18(3), 1995, pp. 313-322
Authors:
TEIN I
SLOANE AE
DONNER E
LEHOTAY DC
MILLINGTON DS
KELLEY RI
Citation: I. Tein et al., PATTY ACID OXIDATION ABNORMALITIES IN CHILDHOOD-ONSET SPINAL MUSCULAR-ATROPHY - PRIMARY OR SECONDARY DEFECT(S), Annals of neurology, 36(3), 1994, pp. 492-493
Authors:
TEIN I
CHRISTODOULOU J
DONNER E
MCINNES RR
Citation: I. Tein et al., CARNITINE PALMITOYLTRANSFERASE-II DEFICIENCY - A NEW CAUSE OF RECURRENT PANCREATITIS, The Journal of pediatrics, 124(6), 1994, pp. 938-940
Authors:
TEIN I
XIE ZW
Citation: I. Tein et Zw. Xie, REVERSAL OF VALPROIC ACID-ASSOCIATED IMPAIRMENT OF CARNITINE UPTAKE IN CULTURED HUMAN SKIN FIBROBLASTS, Biochemical and biophysical research communications, 204(2), 1994, pp. 753-758
Authors:
TEIN I
XIE ZW
Citation: I. Tein et Zw. Xie, REVERSAL OF VALPROIC ACID-ASSOCIATED IMPAIRMENT OF CARNITINE UPTAKE IN CULTURED HUMAN SKIN FIBROBLASTS, Biochemical and biophysical research communications, 204(2), 1994, pp. 753-758
Authors:
MERANTE F
TEIN I
BENSON L
ROBINSON BH
Citation: F. Merante et al., MATERNALLY INHERITED HYPERTROPHIC CARDIOMYOPATHY DUE TO A NOVEL T-TO-C TRANSITION AT NUCLEOTIDE-9997 IN THE MITOCHONDRIAL TRNA(GLYCINE) GENE, American journal of human genetics, 55(3), 1994, pp. 437-446
Authors:
KOO B
BECKER LE
CHUANG S
MERANTE F
ROBINSON BH
MACGREGOR D
TEIN I
HO VB
MCGREAL DA
WHERRETT JR
LOGAN WJ
Citation: B. Koo et al., MITOCHONDRIAL ENCEPHALOMYOPATHY, LACTIC-ACIDOSIS, STROKE-LIKE EPISODES (MELAS) - CLINICAL, RADIOLOGICAL, PATHOLOGICAL, AND GENETIC OBSERVATIONS, Annals of neurology, 34(1), 1993, pp. 25-32
Authors:
TEIN I
DIMAURO S
XIE ZW
DEVIVO DC
Citation: I. Tein et al., VALPROIC ACID IMPAIRS CARNITINE UPTAKE IN CULTURED HUMAN SKIN FIBROBLASTS - AN IN-VITRO MODEL FOR THE PATHOGENESIS OF VALPROIC ACID ASSOCIATED CARNITINE DEFICIENCY, Pediatric research, 34(3), 1993, pp. 281-287
Authors:
MERANTE F
TEIN I
BENSON L
ROBINSON BH
Citation: F. Merante et al., A NOVEL T-TO-C TRANSITION AT NUCLEOTIDE-9997 IN THE MITOCHONDRIAL TRANSFER-RNA GLYCINE GENE GIVING RISE TO MATERNALLY INHERITED HYPERTROPHIC CARDIOMYOPATHY, American journal of human genetics, 53(3), 1993, pp. 928-928
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1-23
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