Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations.

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Mildly elevated succinylacetone and normal liver function in compound heterozygotes with pathogenic and pseudodeficient FAH alleles.Recent advances in understanding liver fibrosis: bridging basic science and individualized treatment concepts.

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Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations.

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Tyrosinemia type 1: a rare and forgotten cause of reversible hypertrophic cardiomyopathy in infancy

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Recommendations for the management of tyrosinaemia type 1

A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I

Newborn screening: toward a uniform screening panel and system

From toxicological problem to therapeutic use: the discovery of the mode of action of 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC), its toxicology and development as a drug

Nontransplant treatment of tyrosinemia.

The nature of the defect in tyrosine metabolism in alcaptonuria.

A new system for grading recommendations in evidence based guidelines

AGREE II: advancing guideline development, reporting and evaluation in health care.

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Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations.

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Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations.

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