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Results: 1-19 |
Results: 19
FETAL HYDROPS - CONGENITAL SIALIDOSIS
Authors: JAIN S JEVON GP APPLEGARTH DA SINGH AJ
Citation: S. Jain et al., FETAL HYDROPS - CONGENITAL SIALIDOSIS, Journal of investigative medicine, 46(1), 1998, pp. 130-130
EARLY AMNIOCENTESIS FOR BIOCHEMICAL-GENETIC PRENATAL-DIAGNOSIS
Authors: TOONE JR APPLEGARTH DA VALLANCE HD WILSON RD
Citation: Jr. Toone et al., EARLY AMNIOCENTESIS FOR BIOCHEMICAL-GENETIC PRENATAL-DIAGNOSIS, Lancet, 351(9110), 1998, pp. 1207-1208
METACHROMATIC LEUKODYSTROPHY IN 3 FAMILIES FROM NOVA-SCOTIA, CANADA -A RECURRING MUTATION IN THE ARYLSULFATASE-A GENE
Authors: COULTERMACKIE MB GAGNIER L BEIS MJ APPLEGARTH DA COLE DEC GORDON K LUDMAN MD
Citation: Mb. Coultermackie et al., METACHROMATIC LEUKODYSTROPHY IN 3 FAMILIES FROM NOVA-SCOTIA, CANADA -A RECURRING MUTATION IN THE ARYLSULFATASE-A GENE, Journal of Medical Genetics, 34(6), 1997, pp. 493-498
DNA-BASED DIAGNOSIS OF ARYLSULFATASE A DEFICIENCIES AS A SUPPLEMENT TO ENZYME ASSAY - A CASE IN POINT
Authors: COULTERMACKIE MB APPLEGARTH DA TOONE J VALLANCE H
Citation: Mb. Coultermackie et al., DNA-BASED DIAGNOSIS OF ARYLSULFATASE A DEFICIENCIES AS A SUPPLEMENT TO ENZYME ASSAY - A CASE IN POINT, Clinical biochemistry, 30(1), 1997, pp. 57-61
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY WITH MULTIPLE DELETIONS OF MITOCHONDRIAL-DNA
Authors: COLLIER TG APPLEGARTH DA CALNE DB
Citation: Tg. Collier et al., MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY WITH MULTIPLE DELETIONS OF MITOCHONDRIAL-DNA, Annals of neurology, 40(3), 1996, pp. 214-214
NONKETOTIC HYPERGLYCINEMIA - ATYPICAL CLINICAL AND BIOCHEMICAL MANIFESTATIONS
Authors: STEINER RD SWEETSER DA ROHRBAUGH JR DOWTON SB TOONE JR APPLEGARTH DA
Citation: Rd. Steiner et al., NONKETOTIC HYPERGLYCINEMIA - ATYPICAL CLINICAL AND BIOCHEMICAL MANIFESTATIONS, The Journal of pediatrics, 128(2), 1996, pp. 243-246
ARE PATIENTS WITH HOMOCYSTINURIA BEING MISSED
Authors: APPLEGARTH DA VALLANCE HD SECCOMBE D
Citation: Da. Applegarth et al., ARE PATIENTS WITH HOMOCYSTINURIA BEING MISSED, European journal of pediatrics, 154(7), 1995, pp. 589-589
ISOLATED-MITOCHONDRIA FROM FROZEN MUSCLE HAVE LIMITED VALUE IN DIAGNOSTICS - REPLY
Authors: APPLEGARTH DA TONG T CLARKE LA
Citation: Da. Applegarth et al., ISOLATED-MITOCHONDRIA FROM FROZEN MUSCLE HAVE LIMITED VALUE IN DIAGNOSTICS - REPLY, European journal of pediatrics, 154(1), 1995, pp. 80-80
ARYLSULFATASE-A PSEUDODEFICIENCY IN FAMILIES AT RISK FOR METACHROMATIC LEUKODYSTROPHY
Authors: COULTERMACKIE MB APPLEGARTH DA TOONE J VALLANCE H RIP J LUDMAN M BEIS J
Citation: Mb. Coultermackie et al., ARYLSULFATASE-A PSEUDODEFICIENCY IN FAMILIES AT RISK FOR METACHROMATIC LEUKODYSTROPHY, American journal of human genetics, 57(4), 1995, pp. 1014-1014
IDURONATE-2-SULFATASE DEFICIENCY IN A DOG - CANINE HUNTER SYNDROME
Authors: PRIEUR DJ WILKERSON MJ LEWIS DC KENNAWAY NG TOONE JR APPLEGARTH DA VALLANCE H MARKS SL WOOD RK
Citation: Dj. Prieur et al., IDURONATE-2-SULFATASE DEFICIENCY IN A DOG - CANINE HUNTER SYNDROME, American journal of human genetics, 57(4), 1995, pp. 1045-1045
A NEW MISSENSE MUTATION IN GLUCOCEREBROSIDASE EXON-9 OF A NON-JEWISH CAUCASIAN TYPE-1 GAUCHER DISEASE PATIENT
Authors: CHOY FYM WEI C APPLEGARTH DA YONG SL
Citation: Fym. Choy et al., A NEW MISSENSE MUTATION IN GLUCOCEREBROSIDASE EXON-9 OF A NON-JEWISH CAUCASIAN TYPE-1 GAUCHER DISEASE PATIENT, Human molecular genetics, 3(5), 1994, pp. 821-823
MURINE ALPHA-L-IDURONIDASE - CDNA ISOLATION AND EXPRESSION
Authors: CLARKE LA NASIR J ZHANG HF MCDONALD H APPLEGARTH DA HAYDEN MR TOONE J
Citation: La. Clarke et al., MURINE ALPHA-L-IDURONIDASE - CDNA ISOLATION AND EXPRESSION, Genomics, 24(2), 1994, pp. 311-316
STABILITY OF FROZEN MUSCLE USED FOR MITOCHONDRIAL ENZYME ASSAYS
Authors: APPLEGARTH DA TONG T CLARKE LA
Citation: Da. Applegarth et al., STABILITY OF FROZEN MUSCLE USED FOR MITOCHONDRIAL ENZYME ASSAYS, European journal of pediatrics, 153(2), 1994, pp. 142-142
DNA ANALYSIS OF AN UNCOMMON MISSENSE MUTATION IN A GAUCHER DISEASE PATIENT OF JEWISH-POLISH-RUSSIAN DESCENT
Authors: CHOY FYM WEI C APPLEGARTH DA MCGILLIVRAY BC
Citation: Fym. Choy et al., DNA ANALYSIS OF AN UNCOMMON MISSENSE MUTATION IN A GAUCHER DISEASE PATIENT OF JEWISH-POLISH-RUSSIAN DESCENT, American journal of medical genetics, 51(2), 1994, pp. 156-160
MEASUREMENT OF PYRUVATE-DEHYDROGENASE COMPLEX (PDHC) IN INTERLEUKIN-2(IL-2) STIMULATED LYMPHOCYTES
Authors: VALLANCE HD TOONE JR APPLEGARTH DA
Citation: Hd. Vallance et al., MEASUREMENT OF PYRUVATE-DEHYDROGENASE COMPLEX (PDHC) IN INTERLEUKIN-2(IL-2) STIMULATED LYMPHOCYTES, Journal of inherited metabolic disease, 17(5), 1994, pp. 627-628
STRUCTURAL ANOMALIES IN PATIENTS WITH INHERITED METABOLIC DISEASES
Authors: BAMFORTH FJ BAMFORTH JS APPLEGARTH DA
Citation: Fj. Bamforth et al., STRUCTURAL ANOMALIES IN PATIENTS WITH INHERITED METABOLIC DISEASES, Journal of inherited metabolic disease, 17(3), 1994, pp. 330-332
PRENATAL-DIAGNOSIS OF NONKETOTIC HYPERGLYCINEMIA - EXPERIENCE IN 50 AT-RISK PREGNANCIES
Authors: TOONE JR APPLEGARTH DA LEVY HL
Citation: Jr. Toone et al., PRENATAL-DIAGNOSIS OF NONKETOTIC HYPERGLYCINEMIA - EXPERIENCE IN 50 AT-RISK PREGNANCIES, Journal of inherited metabolic disease, 17(3), 1994, pp. 342-344
THE DIFFERENTIAL-DIAGNOSIS OF ADULT-ONSET METACHROMATIC LEUKODYSTROPHY AND EARLY-ONSET FAMILIAL ALZHEIMER-DISEASE IN AN ALZHEIMER CLINIC POPULATION
Authors: SADOVNICK AD TUOKKO H APPLEGARTH DA TOONE JR HADJISTAVROPOULOS T BEATTIE BL
Citation: Ad. Sadovnick et al., THE DIFFERENTIAL-DIAGNOSIS OF ADULT-ONSET METACHROMATIC LEUKODYSTROPHY AND EARLY-ONSET FAMILIAL ALZHEIMER-DISEASE IN AN ALZHEIMER CLINIC POPULATION, Canadian journal of neurological sciences, 20(4), 1993, pp. 312-318
COMMON POINT MUTATIONS IN 4 PATIENTS WITH THE LATE INFANTILE FORM OF GALACTOSIALIDOSIS
Authors: ZHOU XY WILLEMSEN R GILLEMANS N MORRONE A STRISCIUGLIO P ANDRIA G APPLEGARTH DA DAZZO A
Citation: Xy. Zhou et al., COMMON POINT MUTATIONS IN 4 PATIENTS WITH THE LATE INFANTILE FORM OF GALACTOSIALIDOSIS, American journal of human genetics, 53(3), 1993, pp. 966-966
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