Work

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

Year: 1994

Type: article

Study design: Case Report

Source: Human Genetics

DOI: 10.1007/bf00201558

Authors: Helge Rootwelt, Janice Chou, William A. Gahl, Ruud Berger, Turgay Coşkun, Else Brodtkorb, Eli Anne Kvittingen

Institutions: University of Oslo, National Institutes of Health, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Wilhelmina Children's Hospital, Hacettepe University

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W2095548508

FWCI: 2.436

Cites: 31

Cited by: 23

Related to: 10