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Results: 1-25 | 26-29
Results: 1-25/29
NEUTROPENIA AND NEUTROPHIL DYSFUNCTION IN GLYCOGEN-STORAGE-DISEASE TYPE 1C
Authors: VISSER G HERWIG J RAKE JP NIEZENKONING KE VERHOEVEN AJ SMIT GPA
Citation: G. Visser et al., NEUTROPENIA AND NEUTROPHIL DYSFUNCTION IN GLYCOGEN-STORAGE-DISEASE TYPE 1C, Journal of inherited metabolic disease, 21(3), 1998, pp. 227-231
PHENYLKETONURIA - THE IN-VIVO HYDROXYLATION RATE OF PHENYLALANINE INTO TYROSINE IS DECREASED
Authors: VANSPRONSEN FJ REIJNGOUD DJ SMIT GPA NAGEL GT STELLAARD F BERGER R HEYMANS HSA
Citation: Fj. Vanspronsen et al., PHENYLKETONURIA - THE IN-VIVO HYDROXYLATION RATE OF PHENYLALANINE INTO TYROSINE IS DECREASED, The Journal of clinical investigation, 101(12), 1998, pp. 2875-2880
DOES IMPAIRED GROWTH OF PKU PATIENTS CORRELATE WITH THE STRICTNESS OFDIETARY-TREATMENT
Authors: VANSPRONSEN FJ VERKERK PH VANHOUTEN M SMIT GPA VANDERMEER SB BAKKER HD SENGERS RCA
Citation: Fj. Vanspronsen et al., DOES IMPAIRED GROWTH OF PKU PATIENTS CORRELATE WITH THE STRICTNESS OFDIETARY-TREATMENT, Acta paediatrica, 86(8), 1997, pp. 816-818
SUCCINYL-COA-ACETOACETATE TRANSFERASE DEFICIENCY - IDENTIFICATION OF A NEW PATIENT WITH A NEONATAL ONSET AND REVIEW OF THE LITERATURE
Authors: NIEZENKONING KE WANDERS RJA RUITER JPN IJLST L VISSER G REITSMABIERENS WCC HEYMANS HSA REIJNGOUD DJ SMIT GPA
Citation: Ke. Niezenkoning et al., SUCCINYL-COA-ACETOACETATE TRANSFERASE DEFICIENCY - IDENTIFICATION OF A NEW PATIENT WITH A NEONATAL ONSET AND REVIEW OF THE LITERATURE, European journal of pediatrics, 156(11), 1997, pp. 870-873
TYPE IIIB GLYCOGEN-STORAGE-DISEASE ASSOCIATED WITH END-STAGE CIRRHOSIS AND HEPATOCELLULAR-CARCINOMA
Authors: HAAGSMA EB SMIT GPA NIEZENKONING KE GOUW ASH MEERMAN L SLOOFF MJH
Citation: Eb. Haagsma et al., TYPE IIIB GLYCOGEN-STORAGE-DISEASE ASSOCIATED WITH END-STAGE CIRRHOSIS AND HEPATOCELLULAR-CARCINOMA, Hepatology, 25(3), 1997, pp. 537-540
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
ABNORMAL GLUTATHIONE CONJUGATION IN PATIENTS WITH TYROSINEMIA TYPE-I
Authors: MULDERS TMT BERGMAN DJW POLLTHE BT SMIT GPA BREIMER DD MULDER GJ DURAN M SMEITINK JAM
Citation: Tmt. Mulders et al., ABNORMAL GLUTATHIONE CONJUGATION IN PATIENTS WITH TYROSINEMIA TYPE-I, Journal of inherited metabolic disease, 20(4), 1997, pp. 473-485
PREVALENCE OF CARRIERS OF THE MOST COMMON MEDIUM-CHAIN ACYL-COA DEHYDROGENASE (MCAD) DEFICIENCY MUTATION (G985A) IN THE NETHERLANDS
Authors: DEVRIES HG NIEZENKONING K KLIPHUIS JW SMIT GPA SCHEFFER H TENKATE LP
Citation: Hg. Devries et al., PREVALENCE OF CARRIERS OF THE MOST COMMON MEDIUM-CHAIN ACYL-COA DEHYDROGENASE (MCAD) DEFICIENCY MUTATION (G985A) IN THE NETHERLANDS, Human genetics, 98(1), 1996, pp. 1-2
NEUROTRANSMITTER POSITRON EMISSION TOMOGRAPHIC-STUDIES IN ADULTS WITHPHENYLKETONURIA, A PILOT-STUDY
Authors: PAANS AMJ PRUIM J SMIT GPA VISSER G WILLEMSEN ATM ULLRICH K
Citation: Amj. Paans et al., NEUROTRANSMITTER POSITRON EMISSION TOMOGRAPHIC-STUDIES IN ADULTS WITHPHENYLKETONURIA, A PILOT-STUDY, European journal of pediatrics, 155, 1996, pp. 78-81
A POINT MUTATION IN AN INVARIANT SPLICE DONOR SITE LEADS TO EXON SKIPPING IN 2 UNRELATED DUTCH PATIENTS WITH DIHYDROPYRIMIDINE DEHYDROGENASE-DEFICIENCY
Authors: VREKEN P VANKUILENBURG ABP MEINSMA R SMIT GPA BAKKER HD DEABREU RA VANGENNIP AH
Citation: P. Vreken et al., A POINT MUTATION IN AN INVARIANT SPLICE DONOR SITE LEADS TO EXON SKIPPING IN 2 UNRELATED DUTCH PATIENTS WITH DIHYDROPYRIMIDINE DEHYDROGENASE-DEFICIENCY, Journal of inherited metabolic disease, 19(5), 1996, pp. 645-654
NATURAL COURSE OF RENAL-FUNCTION IN GLYCOGEN-STORAGE-DISEASE TYPE-I
Authors: RAKE JP GANSEVOORT RT REITSMABIERENS WCC VISSER G SMIT GPA
Citation: Jp. Rake et al., NATURAL COURSE OF RENAL-FUNCTION IN GLYCOGEN-STORAGE-DISEASE TYPE-I, Kidney international, 50(5), 1996, pp. 1770-1771
PHENYLKETONURIA - PLASMA PHENYLALANINE RESPONSES TO DIFFERENT DISTRIBUTIONS OF THE DAILY PHENYLALANINE ALLOWANCE OVER THE DAY
Authors: VANSPRONSEN FJ VANDIJK T SMIT GPA VANRIJN M REIJNGOUD DJ BERGER R HEYMANS HSA
Citation: Fj. Vanspronsen et al., PHENYLKETONURIA - PLASMA PHENYLALANINE RESPONSES TO DIFFERENT DISTRIBUTIONS OF THE DAILY PHENYLALANINE ALLOWANCE OVER THE DAY, Pediatrics, 97(6), 1996, pp. 839-844
LARGE DAILY FLUCTUATIONS IN PLASMA TYROSINE IN TREATED PATIENTS WITH PHENYLKETONURIA
Authors: VANSPRONSEN FJ VANDIJK T SMIT GPA VANRIJN M REIJNGOUD DJ BERGER R HEYMANS HSA
Citation: Fj. Vanspronsen et al., LARGE DAILY FLUCTUATIONS IN PLASMA TYROSINE IN TREATED PATIENTS WITH PHENYLKETONURIA, The American journal of clinical nutrition, 64(6), 1996, pp. 916-921
PHENYLKETONURIA IN THE NETHERLANDS - 93-PERCENT OF THE MUTATIONS ARE DETECTED BY SINGLE-STRAND CONFORMATION ANALYSIS
Authors: VANDERSIJSBOS CJM DIEPSTRATEN CM JUYN JA PLAISIER M GILTAY JC VANSPRONSEN FJ SMIT GPA BERGER R SMEITINK JAM POLLTHE BT VANAMSTEL JKP
Citation: Cjm. Vandersijsbos et al., PHENYLKETONURIA IN THE NETHERLANDS - 93-PERCENT OF THE MUTATIONS ARE DETECTED BY SINGLE-STRAND CONFORMATION ANALYSIS, Human heredity, 46(4), 1996, pp. 185-190
NATURAL-HISTORY OF RENAL-FUNCTION IN GLYCOGEN-STORAGE-DISEASE TYPE-I
Authors: RAKE JP GANSEVOORT RT REITSMABIERENS WCC VISSER G SMIT GPA
Citation: Jp. Rake et al., NATURAL-HISTORY OF RENAL-FUNCTION IN GLYCOGEN-STORAGE-DISEASE TYPE-I, Journal of the American Society of Nephrology, 6(3), 1995, pp. 726-726
TYROSINEMIA TYPE-I - CONSIDERATIONS OF TREATMENT STRATEGY AND EXPERIENCES WITH RISK ASSESSMENT, DIET AND TRANSPLANTATION
Authors: VANSPRONSEN FJ SMIT GPA WIJBURG FA THOMASSE Y VISSER G HEYMANS HSA
Citation: Fj. Vanspronsen et al., TYROSINEMIA TYPE-I - CONSIDERATIONS OF TREATMENT STRATEGY AND EXPERIENCES WITH RISK ASSESSMENT, DIET AND TRANSPLANTATION, Journal of inherited metabolic disease, 18(2), 1995, pp. 111-114
LIVER-TRANSPLANTATION IN TYROSINEMIA TYPE-I - THE GRONINGEN EXPERIENCE
Authors: WIJBURG FA REITSMA WCC SLOOFF MJH VANSPRONSEN FJ KOETSE HA REIJNGOUD DJ SMIT GPA BERGER R BIJLEVELD CMA
Citation: Fa. Wijburg et al., LIVER-TRANSPLANTATION IN TYROSINEMIA TYPE-I - THE GRONINGEN EXPERIENCE, Journal of inherited metabolic disease, 18(2), 1995, pp. 115-118
A PATIENT WITH LETHAL CARDIOMYOPATHY AND A CARNITINE ACYLCARNITINE TRANSLOCASE DEFICIENCY
Authors: NIEZENKONING KE VANSPRONSEN FJ IJLST L WANDERS RJA BRIVET M DURAN M REIJNGOUD DJ HEYMANS HSA SMIT GPA
Citation: Ke. Niezenkoning et al., A PATIENT WITH LETHAL CARDIOMYOPATHY AND A CARNITINE ACYLCARNITINE TRANSLOCASE DEFICIENCY, Journal of inherited metabolic disease, 18(2), 1995, pp. 230-232
LOCALIZATION OF A NEW-TYPE OF X-LINKED LIVER GLYCOGENOSIS TO THE CHROMOSOMAL REGION XP22 CONTAINING THE LIVER ALPHA-SUBUNIT OF PHOSPHORYLASE-KINASE (PHKA2)
Authors: HENDRICKX J COUCKE P HORSCAYLA MC SMIT GPA SHIN YS DEUTSCH J SMEITINK J BERGER R LEE P FERNANDES J WILLEMS PJ
Citation: J. Hendrickx et al., LOCALIZATION OF A NEW-TYPE OF X-LINKED LIVER GLYCOGENOSIS TO THE CHROMOSOMAL REGION XP22 CONTAINING THE LIVER ALPHA-SUBUNIT OF PHOSPHORYLASE-KINASE (PHKA2), Genomics, 21(3), 1994, pp. 620-625
PREDICTORS OF MEAN PHENYLALANINE LEVELS DURING THE FIRST 5 YEARS OF LIFE IN PATIENTS WITH PHENYLKETONURIA WHO WERE TREATED EARLY
Authors: VERKERK PH VANSPRONSEN FJ VANHOUTEN M SMIT GPA SENGERS RCA
Citation: Ph. Verkerk et al., PREDICTORS OF MEAN PHENYLALANINE LEVELS DURING THE FIRST 5 YEARS OF LIFE IN PATIENTS WITH PHENYLKETONURIA WHO WERE TREATED EARLY, Acta paediatrica, 83, 1994, pp. 70-72
HEREDITARY TYROSINEMIA TYPE-I - A NEW CLINICAL CLASSIFICATION WITH DIFFERENCE IN PROGNOSIS ON DIETARY-TREATMENT
Authors: VANSPRONSEN FJ THOMASSE Y SMIT GPA LEONARD JV CLAYTON PT FIDLER V BERGER R HEYMANS HSA
Citation: Fj. Vanspronsen et al., HEREDITARY TYROSINEMIA TYPE-I - A NEW CLINICAL CLASSIFICATION WITH DIFFERENCE IN PROGNOSIS ON DIETARY-TREATMENT, Hepatology, 20(5), 1994, pp. 1187-1191
HEREDITARY TYROSINEMIA TYPE-I - A NEW CLINICAL CLASSIFICATION WITH DIFFERENCE IN PROGNOSIS ON DIETARY-TREATMENT
Authors: VANSPRONSEN FJ THOMASSE Y SMIT GPA LEONARD JV CLAYTON PT FIDLER V BERGER R HEYMANS HSA
Citation: Fj. Vanspronsen et al., HEREDITARY TYROSINEMIA TYPE-I - A NEW CLINICAL CLASSIFICATION WITH DIFFERENCE IN PROGNOSIS ON DIETARY-TREATMENT, Hepatology, 20(5), 1994, pp. 1187-1191
IMPAIRED PRENATAL AND POSTNATAL-GROWTH IN DUTCH PATIENTS WITH PHENYLKETONURIA
Authors: VERKERK PH VANSPRONSEN FJ SMIT GPA SENGERS RCA
Citation: Ph. Verkerk et al., IMPAIRED PRENATAL AND POSTNATAL-GROWTH IN DUTCH PATIENTS WITH PHENYLKETONURIA, Archives of Disease in Childhood, 71(2), 1994, pp. 114-118
COMPLEX CARBOHYDRATES IN THE PREVENTION OF NOCTURNAL HYPOGLYCEMIA IN DIABETIC CHILDREN
Authors: VERVERS MTC ROUWE C SMIT GPA
Citation: Mtc. Ververs et al., COMPLEX CARBOHYDRATES IN THE PREVENTION OF NOCTURNAL HYPOGLYCEMIA IN DIABETIC CHILDREN, European journal of clinical nutrition, 47(4), 1993, pp. 268-273
GLYCOGEN-STORAGE-DISEASE TYPE-I - PREFACE
Authors: MOSES SW SHIN YS SMIT GPA ULLRICH K
Citation: Sw. Moses et al., GLYCOGEN-STORAGE-DISEASE TYPE-I - PREFACE, European journal of pediatrics, 152, 1993, pp. 1-1
Risultati: 1-25 | 26-29