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Results: 5

Authors: BERGMAN AJIW VANDENBERG IET BRINK W POLLTHE BT PLOOSVANAMSTEL JK BERGER R
Citation: Ajiw. Bergman et al., SPECTRUM OF MUTATIONS IN THE FUMARYLACETOACETATE HYDROLASE GENE OF TYROSINEMIA TYPE-1 PATIENTS IN NORTHWESTERN EUROPE AND MEDITERRANEAN COUNTRIES, Human mutation, 12(1), 1998, pp. 19-26

Authors: VANAMSTEL JKP BERGMAN AJIW VANBEURDEN EACM ROIJERS JFM PEELEN T VANDENBERG IET POLLTHE BT KVITTINGEN EA BERGER R
Citation: Jkp. Vanamstel et al., HEREDITARY TYROSINEMIA TYPE-1 - NOVEL MISSENSE, NONSENSE AND SPLICE CONSENSUS MUTATIONS IN THE HUMAN FUMARYLACETOACETATE HYDROLASE GENE - VARIABILITY OF THE GENOTYPE-PHENOTYPE RELATIONSHIP, Human genetics, 97(1), 1996, pp. 51-59

Authors: BERGMAN AJIW VANDERKNAAP MS SMEITINK JAM DURAN M DORLAND L VALK J POLLTHE BT
Citation: Ajiw. Bergman et al., MAGNETIC-RESONANCE-IMAGING AND SPECTROSCOPY OF THE BRAIN IN PROPIONICACIDEMIA - CLINICAL AND BIOCHEMICAL CONSIDERATIONS, Pediatric research, 40(3), 1996, pp. 404-409

Authors: VANAMSTEL JKP BERGMAN AJIW VANDENBERG IET POLLTHE BT BERGER R
Citation: Jkp. Vanamstel et al., HEREDITARY TYROSINEMIA TYPE-I (HT1) - IVS6-1(G-T) AND IVS12-A) ARE COMMON MUTATIONS IN THE FUMARYLACETOACETASE (FAH) GENE OF PATIENTS OF EUROPEAN AND MEDITERRANEAN(5(G), American journal of human genetics, 57(4), 1995, pp. 1441-1441

Authors: BERGMAN AJIW DONCKERWOLCKE RAMG DURAN M SMEITINK JAM MOUSSON B VIANEYSABAN C POLLTHE BT
Citation: Ajiw. Bergman et al., RATE-DEPENDENT DISTAL RENAL TUBULAR-ACIDOSIS AND CARNITINE PALMITOYLTRANSFERASE-I DEFICIENCY, Pediatric research, 36(5), 1994, pp. 582-588
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