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Results: 1-25 | 26-36
Results: 1-25/36
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
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
IATROGENIC ISOLATED ISOLEUCINE DEFICIENCY AS THE CAUSE OF AN ACRODERMATITIS ENTEROPATHICA-LIKE SYNDROME
Authors: BOSCH AM SMITT JHS VANGENNIP AH ABELING NGGM SCHUTGENS RBH BAKKER HD WIJBURG FA
Citation: Am. Bosch et al., IATROGENIC ISOLATED ISOLEUCINE DEFICIENCY AS THE CAUSE OF AN ACRODERMATITIS ENTEROPATHICA-LIKE SYNDROME, British journal of dermatology, 139(3), 1998, pp. 488-491
SMITH-LEMLI-OPITZ SYNDROME DIAGNOSED 130-YEAR-OLD ANATOMICAL SPECIMEN
Authors: OOSTRA RJ BALJET B SCHUTGENS RBH HENNEKAM RCM
Citation: Rj. Oostra et al., SMITH-LEMLI-OPITZ SYNDROME DIAGNOSED 130-YEAR-OLD ANATOMICAL SPECIMEN, American journal of medical genetics, 68(3), 1997, pp. 257-259
FOLATE-RESPONSIVE HOMOCYSTINURIA AND MEGALOBLASTIC-ANEMIA IN A FEMALE-PATIENT WITH FUNCTIONAL METHIONINE SYNTHASE DEFICIENCY (CBLE DISEASE)
Authors: FOWLER B SCHUTGENS RBH ROSENBLATT DS SMIT GPA LINDEMANS J
Citation: B. Fowler et al., FOLATE-RESPONSIVE HOMOCYSTINURIA AND MEGALOBLASTIC-ANEMIA IN A FEMALE-PATIENT WITH FUNCTIONAL METHIONINE SYNTHASE DEFICIENCY (CBLE DISEASE), Journal of inherited metabolic disease, 20(6), 1997, pp. 731-741
A NEW PEROXISOMAL BETA-OXIDATION DISORDER IN TWIN NEONATES - DEFECTIVE OXIDATION OF BOTH CEROTIC AND PRISTANIC ACIDS
Authors: CHRISTENSEN E PEDERSEN SA LETH H JAKOBS C SCHUTGENS RBH WANDERS RJA
Citation: E. Christensen et al., A NEW PEROXISOMAL BETA-OXIDATION DISORDER IN TWIN NEONATES - DEFECTIVE OXIDATION OF BOTH CEROTIC AND PRISTANIC ACIDS, Journal of inherited metabolic disease, 20(5), 1997, pp. 658-664
HIGHLY INCREASED CSF CONCENTRATIONS OF CHOLESTEROL PRECURSORS IN SMITH-LEMLI-OPITZ-SYNDROME
Authors: VANROOIJ A NIJENHUIS AA WIJBURG FA SCHUTGENS RBH
Citation: A. Vanrooij et al., HIGHLY INCREASED CSF CONCENTRATIONS OF CHOLESTEROL PRECURSORS IN SMITH-LEMLI-OPITZ-SYNDROME, Journal of inherited metabolic disease, 20(4), 1997, pp. 578-580
CLINICAL AND MAGNETIC-RESONANCE-IMAGING FEATURES OF L-2-HYDROXYGLUTARIC ACIDEMIA - REPORT OF 3 CASES IN COMPARISON WITH CANAVAN DISEASE
Authors: TOPCU M ERDEM G SAATCI I AKTAN G SIMSEK A RENDA Y SCHUTGENS RBH WANDERS RJA JACOBS C
Citation: M. Topcu et al., CLINICAL AND MAGNETIC-RESONANCE-IMAGING FEATURES OF L-2-HYDROXYGLUTARIC ACIDEMIA - REPORT OF 3 CASES IN COMPARISON WITH CANAVAN DISEASE, Journal of child neurology, 11(5), 1996, pp. 373-377
ISOLATED DIHYDROXYACETONEPHOSPHATE-ACYL-TRANSFERASE DEFICIENCY IN RHIZOMELIC CHONDRODYSPLASIA PUNCTATA - CLINICAL PRESENTATION, METABOLIC AND HISTOLOGICAL-FINDINGS
Authors: HEBESTREIT H WANDERS RJA SCHUTGENS RBH ESPEEL M KERCKAERT I ROELS F SCHMAUSSER B SCHROD L MARX A
Citation: H. Hebestreit et al., ISOLATED DIHYDROXYACETONEPHOSPHATE-ACYL-TRANSFERASE DEFICIENCY IN RHIZOMELIC CHONDRODYSPLASIA PUNCTATA - CLINICAL PRESENTATION, METABOLIC AND HISTOLOGICAL-FINDINGS, European journal of pediatrics, 155(12), 1996, pp. 1035-1039
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
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
PRENATAL-DIAGNOSIS OF PEROXISOMAL DISORDERS
Authors: SCHUTGENS RBH WANDERS RJA
Citation: Rbh. Schutgens et Rja. Wanders, PRENATAL-DIAGNOSIS OF PEROXISOMAL DISORDERS, Pediatric research, 39(4), 1996, pp. 869-869
IDENTIFICATION AND EXPRESSION OF 8 NOVEL MUTATIONS AMONG NON-JEWISH PATIENTS WITH CANAVAN DISEASE
Authors: KAUL R GAO GP MATALON R ALOYA M SU Q JIN M JOHNSON AB SCHUTGENS RBH CLARKE JTR
Citation: R. Kaul et al., IDENTIFICATION AND EXPRESSION OF 8 NOVEL MUTATIONS AMONG NON-JEWISH PATIENTS WITH CANAVAN DISEASE, American journal of human genetics, 59(1), 1996, pp. 95-102
PLATELET ACTIVATION IN ADRENOLEUKODYSTROPHY PATIENTS USING LORENZOS-OIL
Authors: VANGEEL BM STURK A SCHAAP MCL VONDEMBORNE AEGK DEBRUIJNEADMIRAAL LG SCHUTGENS RBH ASSIES J BARTH PG
Citation: Bm. Vangeel et al., PLATELET ACTIVATION IN ADRENOLEUKODYSTROPHY PATIENTS USING LORENZOS-OIL, Thrombosis and haemostasis, 73(6), 1995, pp. 1002-1002
PEROXISOME MOSAICISM IN THE LIVERS OF PEROXISOMAL DEFICIENCY PATIENTS
Authors: ESPEEL M MANDEL H POGGI F SMEITINK JAM WANDERS RJA KERCKAERT I SCHUTGENS RBH SAUDUBRAY JM POLLTHE BT ROELS F
Citation: M. Espeel et al., PEROXISOME MOSAICISM IN THE LIVERS OF PEROXISOMAL DEFICIENCY PATIENTS, Hepatology, 22(2), 1995, pp. 497-504
A MISDIAGNOSIS OF X-LINKED ADRENOLEUKODYSTROPHY IN CULTURED CHRONIC VILLUS CELLS BY THE MEASUREMENT OF VERY LONG-CHAIN FATTY-ACIDS
Authors: GRAY RGF GREEN A COLE T DAVIDSON V GILES M SCHUTGENS RBH WANDERS RJA
Citation: Rgf. Gray et al., A MISDIAGNOSIS OF X-LINKED ADRENOLEUKODYSTROPHY IN CULTURED CHRONIC VILLUS CELLS BY THE MEASUREMENT OF VERY LONG-CHAIN FATTY-ACIDS, Prenatal diagnosis, 15(5), 1995, pp. 486-490
MEASUREMENT OF DIHYDROXYACETONE-PHOSPHATE ACYLTRANSFERASE (DHAPAT) INCHORIONIC VILLOUS SAMPLES, BLOOD-CELLS AND CULTURED-CELLS
Authors: WANDERS RJA OFMAN R ROMEIJN GJ SCHUTGENS RBH MOOIJER PAW VANDENBOSCH H
Citation: Rja. Wanders et al., MEASUREMENT OF DIHYDROXYACETONE-PHOSPHATE ACYLTRANSFERASE (DHAPAT) INCHORIONIC VILLOUS SAMPLES, BLOOD-CELLS AND CULTURED-CELLS, Journal of inherited metabolic disease, 18, 1995, pp. 90-100
IMMUNOBLOT ANALYSIS OF PEROXISOMAL PROTEINS IN LIVER AND FIBROBLASTS FROM PATIENTS
Authors: WANDERS RJA DEKKER C OFMAN R SCHUTGENS RBH MOOIJER P
Citation: Rja. Wanders et al., IMMUNOBLOT ANALYSIS OF PEROXISOMAL PROTEINS IN LIVER AND FIBROBLASTS FROM PATIENTS, Journal of inherited metabolic disease, 18, 1995, pp. 101-112
MEASUREMENT OF PEROXISOMAL FATTY-ACID BETA-OXIDATION IN CULTURED HUMAN SKIN FIBROBLASTS
Authors: WANDERS RJA DENIS S RUITER JPN SCHUTGENS RBH VANROERMUND CWT JACOBS BS
Citation: Rja. Wanders et al., MEASUREMENT OF PEROXISOMAL FATTY-ACID BETA-OXIDATION IN CULTURED HUMAN SKIN FIBROBLASTS, Journal of inherited metabolic disease, 18, 1995, pp. 113-124
PEROXISOMAL DISORDERS - A REVIEW
Authors: WANDERS RJA SCHUTGENS RBH BARTH PG
Citation: Rja. Wanders et al., PEROXISOMAL DISORDERS - A REVIEW, Journal of neuropathology and experimental neurology, 54(5), 1995, pp. 726-739
L-PHENYLALANINE AND UVA IRRADIATION IN THE TREATMENT OF VITILIGO
Authors: SIDDIQUI AH STOLK LML BHAGGOE R HU R SCHUTGENS RBH WESTERHOF W
Citation: Ah. Siddiqui et al., L-PHENYLALANINE AND UVA IRRADIATION IN THE TREATMENT OF VITILIGO, Dermatology, 188(3), 1994, pp. 215-218
CLINICAL AND BIOCHEMICAL CHARACTERISTICS OF PEROXISOMAL DISORDERS - AN UPDATE
Authors: WANDERS RJA BARTH PG SCHUTGENS RBH TAGER JM
Citation: Rja. Wanders et al., CLINICAL AND BIOCHEMICAL CHARACTERISTICS OF PEROXISOMAL DISORDERS - AN UPDATE, European journal of pediatrics, 153(7), 1994, pp. 190000044-190000048
NORMALIZATION OF SEVERE CRANIAL CT SCAN ABNORMALITIES AFTER BIOTIN INA CASE OF BIOTINIDASE DEFICIENCY
Authors: BAKKER HD WESTRA M OVERWEGPLANDSOEN WCG VANWAVEREN G SMITT JHS ABELING NGGM WANDERS RJA SCHUTGENS RBH VANGENNIP AH
Citation: Hd. Bakker et al., NORMALIZATION OF SEVERE CRANIAL CT SCAN ABNORMALITIES AFTER BIOTIN INA CASE OF BIOTINIDASE DEFICIENCY, European journal of pediatrics, 153(11), 1994, pp. 861-862
ISOLATED DIHYDROXYACETONEPHOSPHATE ACYLTRANSFERASE DEFICIENCY PRESENTING WITH DEVELOPMENTAL DELAY
Authors: CLAYTON PT ECKHARDT S WILSON J HALL CM YOUSUF Y WANDERS RJA SCHUTGENS RBH
Citation: Pt. Clayton et al., ISOLATED DIHYDROXYACETONEPHOSPHATE ACYLTRANSFERASE DEFICIENCY PRESENTING WITH DEVELOPMENTAL DELAY, Journal of inherited metabolic disease, 17(5), 1994, pp. 533-540
PEROXISOMAL FUNCTIONS IN MULIBREY NANISM
Authors: SCHUTGENS RBH RYYNANEN M WANDERS RJA
Citation: Rbh. Schutgens et al., PEROXISOMAL FUNCTIONS IN MULIBREY NANISM, Journal of inherited metabolic disease, 17(5), 1994, pp. 626-626
Risultati: 1-25 | 26-36