Literature DB >> 20703138

Archibald Edward Garrod and alcaptonuria: "Inborn errors of metabolism" revisited.

Anna Piro1, Giuseppe Tagarelli, Paolo Lagonia, Aldo Quattrone, Antonio Tagarelli.   

Abstract

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Year:  2010        PMID: 20703138     DOI: 10.1097/GIM.0b013e3181e68843

Source DB:  PubMed          Journal:  Genet Med        ISSN: 1098-3600            Impact factor:   8.822


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  3 in total

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2.  100 years of inherited metabolic disorders in Austria-A national registry of minimal birth prevalence, diagnosis, and clinical outcome of inborn errors of metabolism in Austria between 1921 and 2021.

Authors:  Gabriele Ramoser; Federica Caferri; Bernhard Radlinger; Michaela Brunner-Krainz; Sybille Herbst; Martina Huemer; Miriam Hufgard-Leitner; Susanne G Kircher; Vassiliki Konstantopoulou; Wolfgang Löscher; Dorothea Möslinger; Barbara Plecko; Johannes Spenger; Thomas Stulnig; Gere Sunder-Plassmann; Saskia Wortmann; Sabine Scholl-Bürgi; Daniela Karall
Journal:  J Inherit Metab Dis       Date:  2021-10-17       Impact factor: 4.750

3.  Medical genetics and genomic medicine in the United States. Part 2: Reproductive genetics, newborn screening, genetic counseling, training, and registries.

Authors:  Debra S Regier; Carlos R Ferreira; Suzanne Hart; Donald W Hadley; Maximilian Muenke
Journal:  Mol Genet Genomic Med       Date:  2017-11       Impact factor: 2.183

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