AAAAAA

   
Results: 1-25 | 26-50 | 51-66
Results: 1-25/66
THE HEART IN LIMB-GIRDLE MUSCULAR-DYSTROPHY
Authors: VANDERKOOI AJ DEVOOGT WG BARTH PG BUSCH HFM JENNEKENS FGI JONGEN PJH DEVISSER M
Citation: Aj. Vanderkooi et al., THE HEART IN LIMB-GIRDLE MUSCULAR-DYSTROPHY, HEART, 79(1), 1998, pp. 73-77
X-CHROMOSOME INACTIVATION IN CARRIERS OF BARTH-SYNDROME
Authors: ORSTAVIK KH ORSTAVIK RE NAUMOVA AK DADAMO P BOLHUIS PA BARTH PG TONIOLO D
Citation: Kh. Orstavik et al., X-CHROMOSOME INACTIVATION IN CARRIERS OF BARTH-SYNDROME, European journal of human genetics, 6, 1998, pp. 1064-1064
INFANTILE FIBER-TYPE DISPROPORTION, MYOFIBRILLAR LYSIS AND CARDIOMYOPATHY - A DISORDER IN 3 UNRELATED DUTCH FAMILIES
Authors: BARTH PG WANDERS RJA RUITENBEEK W ROE C SCHOLTE HR VANDERHARTEN H VANMOORSEL J DURAN M DINGEMANS KP
Citation: Pg. Barth et al., INFANTILE FIBER-TYPE DISPROPORTION, MYOFIBRILLAR LYSIS AND CARDIOMYOPATHY - A DISORDER IN 3 UNRELATED DUTCH FAMILIES, Neuromuscular disorders, 8(5), 1998, pp. 296-304
LORENZOS OIL AND PLATELET ACTIVATION IN ADRENOMYELONEUROPATHY AND ASYMPTOMATIC X-LINKED ADRENOLEUKODYSTROPHY
Authors: KONIJNENBERG A VANGEEL BM STURK A SCHAAP MCL VONDEMBORNE AEGK DEBRUIJNEADMIRAAL LG SCHUTGENS RBH ASSIES J BARTH PG
Citation: A. Konijnenberg et al., LORENZOS OIL AND PLATELET ACTIVATION IN ADRENOMYELONEUROPATHY AND ASYMPTOMATIC X-LINKED ADRENOLEUKODYSTROPHY, Platelets, 9(1), 1998, pp. 41-48
LIMB-GIRDLE MUSCULAR-DYSTROPHY - A PATHOLOGICAL AND IMMUNOHISTOCHEMICAL REEVALUATION
Authors: KOOI AVD GINJAAR HB BUSCH HFM WOKKE JHJ BARTH PG DEVISSER M
Citation: Avd. Kooi et al., LIMB-GIRDLE MUSCULAR-DYSTROPHY - A PATHOLOGICAL AND IMMUNOHISTOCHEMICAL REEVALUATION, Muscle & nerve, 21(5), 1998, pp. 584-590
AROMATIC L-AMINO-ACID DECARBOXYLASE DEFICIENCY - A NEW CASE WITH A MILD CLINICAL PRESENTATION AND UNEXPECTED LABORATORY FINDINGS
Authors: ABELING NGGM VANGENNIP AH BARTH PG VANCRUCHTEN A WESTRA M WIJBURG FA
Citation: Nggm. Abeling et al., AROMATIC L-AMINO-ACID DECARBOXYLASE DEFICIENCY - A NEW CASE WITH A MILD CLINICAL PRESENTATION AND UNEXPECTED LABORATORY FINDINGS, Journal of inherited metabolic disease, 21(3), 1998, pp. 240-242
L-2-HYDROXYGLUTARIC ACIDURIA AND LACTIC-ACIDOSIS
Authors: BARTH PG WANDERS RJA SCHOLTE HR ABELING N JAKOBS C SCHUTGENS RBH VREKEN P
Citation: Pg. Barth et al., L-2-HYDROXYGLUTARIC ACIDURIA AND LACTIC-ACIDOSIS, Journal of inherited metabolic disease, 21(3), 1998, pp. 251-254
PHENOTYPIC VARIATION IN LEUKOENCEPHALOPATHY WITH VANISHING WHITE-MATTER
Authors: VANDERKNAAP MS KAMPHORST M BARTH PG KRAAIJEVELD CL GUT E VALK J
Citation: Ms. Vanderknaap et al., PHENOTYPIC VARIATION IN LEUKOENCEPHALOPATHY WITH VANISHING WHITE-MATTER, Neurology, 51(2), 1998, pp. 540-547
PEROXISOME BIOGENESIS DISORDERS - IDENTIFICATION OF A NEW COMPLEMENTATION GROUP DISTINCT FROM PEROXISOME-DEFICIENT CHO MUTANTS AND NOT COMPLEMENTED BY HUMAN PEX-13
Authors: SHIMOZAWA N SUZUKI Y ZHANG ZY IMAMURA A TSUKAMOTO T OSUMI T TATEISHI K OKUMOTO K FUJIKI Y ORII T BARTH PG WANDERS RJA KONDO N
Citation: N. Shimozawa et al., PEROXISOME BIOGENESIS DISORDERS - IDENTIFICATION OF A NEW COMPLEMENTATION GROUP DISTINCT FROM PEROXISOME-DEFICIENT CHO MUTANTS AND NOT COMPLEMENTED BY HUMAN PEX-13, Biochemical and biophysical research communications, 243(2), 1998, pp. 368-371
X-CHROMOSOME INACTIVATION IN CARRIERS OF BARTH-SYNDROME
Authors: ORSTAVIK KH ORSTAVIK RE NAUMOVA AK DADAMO P GEDEON A BOLHUIS PA BARTH PG TONIOLO D
Citation: Kh. Orstavik et al., X-CHROMOSOME INACTIVATION IN CARRIERS OF BARTH-SYNDROME, American journal of human genetics, 63(5), 1998, pp. 1457-1463
MAGNETIC-RESONANCE-IMAGING IN CLASSIFICATION OF CONGENITAL MUSCULAR-DYSTROPHIES WITH BRAIN ABNORMALITIES
Authors: VANDERKNAAP MS SMIT LME BARTH PG CATSMANBERREVOETS CE BROUWER OF BEGEER JH DECOO IFM VALK J
Citation: Ms. Vanderknaap et al., MAGNETIC-RESONANCE-IMAGING IN CLASSIFICATION OF CONGENITAL MUSCULAR-DYSTROPHIES WITH BRAIN ABNORMALITIES, Annals of neurology, 42(1), 1997, pp. 50-59
SIGNS OF TESTICULAR INSUFFICIENCY IN ADRENOMYELONEUROPATHY AND NEUROLOGICALLY ASYMPTOMATIC X-LINKED ADRENOLEUKODYSTROPHY - A RETROSPECTIVE STUDY
Authors: ASSIES J GOOREN LJG VANGEEL B BARTH PG
Citation: J. Assies et al., SIGNS OF TESTICULAR INSUFFICIENCY IN ADRENOMYELONEUROPATHY AND NEUROLOGICALLY ASYMPTOMATIC X-LINKED ADRENOLEUKODYSTROPHY - A RETROSPECTIVE STUDY, International journal of andrology, 20(5), 1997, pp. 315-321
A NEW LEUKOENCEPHALOPATHY WITH VANISHING WHITE-MATTER
Authors: VANDERKNAAP MS BARTH PG GABREELS FJM FRANZONI E BEGEER JH STROINK H ROTTEVEEL JJ VALK J
Citation: Ms. Vanderknaap et al., A NEW LEUKOENCEPHALOPATHY WITH VANISHING WHITE-MATTER, Neurology, 48(4), 1997, pp. 845-855
X-LINKED ADRENOLEUKODYSTROPHY - CLINICAL PRESENTATION, DIAGNOSIS, ANDTHERAPY
Authors: VANGEEL BM ASSIES J WANDERS RJA BARTH PG
Citation: Bm. Vangeel et al., X-LINKED ADRENOLEUKODYSTROPHY - CLINICAL PRESENTATION, DIAGNOSIS, ANDTHERAPY, Journal of Neurology, Neurosurgery and Psychiatry, 63(1), 1997, pp. 4-14
AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA WITH RETINAL DEGENERATION (ADCA-II) - CLINICAL AND NEUROPATHOLOGICAL FINDINGS IN 2 PEDIGREES AND GENETIC-LINKAGE TO 3P12-P21.1
Authors: JOBSIS GJ WEBER JW BARTH PG KEIZERS H BAAS F VANSCHOONEVELD MJ VANHILTEN JJ TROOST D GEESINK HH BOLHUIS PA
Citation: Gj. Jobsis et al., AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA WITH RETINAL DEGENERATION (ADCA-II) - CLINICAL AND NEUROPATHOLOGICAL FINDINGS IN 2 PEDIGREES AND GENETIC-LINKAGE TO 3P12-P21.1, Journal of Neurology, Neurosurgery and Psychiatry, 62(4), 1997, pp. 367-371
THE X-LINKED GENE G4.5 IS RESPONSIBLE FOR DIFFERENT INFANTILE DILATEDCARDIOMYOPATHIES
Authors: DADAMO P FASSONE L GEDEON A JANSSEN EAM BIONE S BOLHUIS PA BARTH PG WILSON M HAAN E ORSTAVIK KH PATTON MA GREEN AJ ZAMMARCHI E DONATI MA TONIOLO D
Citation: P. Dadamo et al., THE X-LINKED GENE G4.5 IS RESPONSIBLE FOR DIFFERENT INFANTILE DILATEDCARDIOMYOPATHIES, American journal of human genetics, 61(4), 1997, pp. 862-867
NON-RHIZOMELIC AND RHIZOMELIC CHONDRODYSPLASIA PUNCTATA WITHIN A SINGLE COMPLEMENTATION GROUP
Authors: MOTLEY AM TABAK HF SMEITINK JAM POLLTHE BT BARTH PG WANDERS RJA
Citation: Am. Motley et al., NON-RHIZOMELIC AND RHIZOMELIC CHONDRODYSPLASIA PUNCTATA WITHIN A SINGLE COMPLEMENTATION GROUP, Biochimica et biophysica acta. Molecular basis of disease, 1315(3), 1996, pp. 153-158
LISSENCEPHALY WITH EXTREME CEREBRAL AND CEREBELLAR HYPOPLASIA - A MAGNETIC-RESONANCE-IMAGING STUDY
Authors: KROON AA SMIT BJ BARTH PG HENNEKAM RCM
Citation: Aa. Kroon et al., LISSENCEPHALY WITH EXTREME CEREBRAL AND CEREBELLAR HYPOPLASIA - A MAGNETIC-RESONANCE-IMAGING STUDY, Neuropediatrics, 27(5), 1996, pp. 273-276
CEREBELLAR HYPOPLASIA IN RESPIRATORY-CHAIN DYSFUNCTION
Authors: LINCKE CR VANDENBOGERT C NIJTMANS LGJ WANDERS RJA TAMMINGA P BARTH PG
Citation: Cr. Lincke et al., CEREBELLAR HYPOPLASIA IN RESPIRATORY-CHAIN DYSFUNCTION, Neuropediatrics, 27(4), 1996, pp. 216-218
VARIANT RHIZOMELIC CHONDRODYSPLASIA PUNCTATA (RCDP) WITH NORMAL PLASMA PHYTANIC ACID - CLINICOBIOCHEMICAL DELINEATION OF A SUBTYPE AND COMPLEMENTATION STUDIES
Authors: BARTH PG WANDERS RJA SCHUTGENS RBH STAALMAN CR
Citation: Pg. Barth et al., VARIANT RHIZOMELIC CHONDRODYSPLASIA PUNCTATA (RCDP) WITH NORMAL PLASMA PHYTANIC ACID - CLINICOBIOCHEMICAL DELINEATION OF A SUBTYPE AND COMPLEMENTATION STUDIES, American journal of medical genetics, 62(2), 1996, pp. 164-168
ALDP EXPRESSION IN FIBROBLASTS OF PATIENTS WITH X-LINKED ADRENOLEUKODYSTROPHY
Authors: KEMP S MOOYER PAW BOLHUIS PA VANGEEL BM MANDEL JL BARTH PG AUBOURG P WANDERS RJA
Citation: S. Kemp et al., ALDP EXPRESSION IN FIBROBLASTS OF PATIENTS WITH X-LINKED ADRENOLEUKODYSTROPHY, Journal of inherited metabolic disease, 19(5), 1996, pp. 667-674
PROGRESSIVE GENERALIZED BRAIN ATROPHY AND INFANTILE SPASMS ASSOCIATEDWITH CYTOCHROME-C-OXIDASE DEFICIENCY
Authors: BAKKER HD VANDENBOGERT C DREWES JG BARTH PG SCHOLTE HR WANDERS RJA RUITENBEEK W
Citation: Hd. Bakker et al., PROGRESSIVE GENERALIZED BRAIN ATROPHY AND INFANTILE SPASMS ASSOCIATEDWITH CYTOCHROME-C-OXIDASE DEFICIENCY, Journal of inherited metabolic disease, 19(2), 1996, pp. 153-156
X-LINKED CARDIOSKELETAL MYOPATHY AND NEUTROPENIA (BARTH SYNDROME) - RESPIRATORY-CHAIN ABNORMALITIES IN CULTURED FIBROBLASTS
Authors: BARTH PG VANDENBOGERT C BOLHUIS PA SCHOLTE HR VANGENNIP AH SCHUTGENS RBH KETEL AG
Citation: Pg. Barth et al., X-LINKED CARDIOSKELETAL MYOPATHY AND NEUTROPENIA (BARTH SYNDROME) - RESPIRATORY-CHAIN ABNORMALITIES IN CULTURED FIBROBLASTS, Journal of inherited metabolic disease, 19(2), 1996, pp. 157-160
NORMAL GYRATION AND SULCATION IN PRETERM AND TERM NEONATES - APPEARANCE ON MR-IMAGES
Authors: VANDERKNAAP MS VANWEZELMEIJLER G BARTH PG BARKHOF F ADER HJ VALK J
Citation: Ms. Vanderknaap et al., NORMAL GYRATION AND SULCATION IN PRETERM AND TERM NEONATES - APPEARANCE ON MR-IMAGES, Radiology, 200(2), 1996, pp. 389-396
PERIPHERAL-NERVE ABNORMALITIES IN ADRENOMYELONEUROPATHY - A CLINICAL AND ELECTRODIAGNOSTIC STUDY
Authors: VANGEEL BM KOELMAN JHTM BARTH PG DEVISSER BWO
Citation: Bm. Vangeel et al., PERIPHERAL-NERVE ABNORMALITIES IN ADRENOMYELONEUROPATHY - A CLINICAL AND ELECTRODIAGNOSTIC STUDY, Neurology, 46(1), 1996, pp. 112-118
Risultati: 1-25 | 26-50 | 51-66