Berger, R

Hereditary Tyrosinemia Type I: A New Clinical Classification With Difference in Prognosis on Dietary Treatment

Van Spronsen, F. J., Thomasse, Y., Smit, P. G. A., Leonard, J. V., Clayton, P. T., Fidler, V., Berger, R., & Heymans, H. S. A. (1994) · Hepatology

Metabolism and Genetic DisordersAmino Acid Enzymes and Metabolism

Cited by 193

Self-induced correction of the genetic defect in tyrosinemia type I.

Kvittingen, E. A., Rootwelt, H., Berger, R., & Brandtzaeg, P. (1994) · Journal of Clinical Investigation

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 168

Hereditary tyrosinemia type I: Self-induced correction of the fumarylacetoacetase defect

Kvittingen, E. A., Rootwelt, H., Brandtzaeg, P., Bergan, A., & Berger, R. (1993) · Journal of Clinical Investigation

Metabolism and Genetic DisordersAmino Acid Enzymes and Metabolism

Cited by 102

Hereditary tyrosinemia type 1: novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship

van Amstel, J. K. P., Bergman, A. J. I. W., van Beurden, E. A. C. M., Roijers, J. F. M., Peelen, T., van den Berg, I. E. T., Poll-The, B. T., Kvittingen, E. A., & Berger, R. (1996) · Human Genetics

Metabolism and Genetic DisordersAmino Acid Enzymes and Metabolism

Cited by 60

Biochemical studies on the enzymatic deficiencies in hereditary tyrosinemia

Berger, R., van Faassen, H., & Smith, G. P. A. (1983) · Clinica Chimica Acta

Metabolism and Genetic DisordersAmino Acid Enzymes and Metabolism

Cited by 45

Type I Tyrosinemia: Lack of Immunologically Detectable Fumarylacetoacetase Enzyme Protein in Tissues and Cell Extracts

Berger, R., Van Faassen, H., Taanman, J. W., De Vries, H., & Agsteribbe, E. (1987) · Pediatric Research

Metabolism and Genetic DisordersAmino Acid Enzymes and Metabolism

Cited by 37

Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase

Rootwelt, H., Chou, J., Gahl, W. A., Berger, R., Coşkun, T., Brodtkorb, E., & Kvittingen, E. A. (1994) · Human Genetics

Metabolism and Genetic DisordersAmino Acid Enzymes and Metabolism

Cited by 23

Tyrosinemia type 1 ? complex splicing defects and a missense mutation in the fumarylacetoacetase gene

Rootwelt, H., Kristensen, T., Berger, R., H�ie, K., & Kvittingen, E. (1994) · Human Genetics

Metabolism and Genetic DisordersAmino Acid Enzymes and Metabolism

Cited by 23

Hereditary Tyrosinemia Type I: Lack of Correlation between Clinical Findings and Amount of Immunoreactive Fumarylacetoacetase Protein

Kvittingen, E. A., Rootwelt, H., van Dam, T., van Faassen, H., & Berger, R. (1992) · Pediatric Research

Metabolism and Genetic DisordersAmino Acid Enzymes and Metabolism

Cited by 21