PICO Portalanswers from OpenAlex
Metabolism and Genetic Disorders
TopicLeading institutions, researchers & key papers
Metabolism and Genetic Disorders is a topic indexed in PICO Portal from OpenAlex.
What is known about Metabolism and Genetic Disorders?
PICO Portalrecord summary
This cluster of papers covers a wide range of topics related to metabolic disorders and biochemical genetics, including newborn screening, mitochondrial function, carnitine metabolism, phenylketonuria, tandem mass spectrometry, inborn errors of metabolism, tyrosine hydroxylase activity, and tetrahydrobiopterin biosynthesis. The papers discuss various aspects of diagnosis, management, and treatment of these disorders.
How many works does Metabolism and Genetic Disorders have?
PICO Portalindexed works
Metabolism and Genetic Disorders has 334 works in the PICO Portal index. The count is the OpenAlex total, not the number of papers listed on this page.
What is the OpenAlex record for Metabolism and Genetic Disorders?
PICO Portalopenalex
The OpenAlex for Metabolism and Genetic Disorders is on the source record.
What are the most-cited papers on Metabolism and Genetic Disorders?
PICO Portalmost cited works
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia
Matthias R. Baumgartner, Friederike Hörster, Carlo Dionisi‐Vici, Göknur Haliloğlu, Daniela Karall, Kimberly A. Chapman, Martina Huemer, Michel Hochuli, Murielle Assoun, Diana Ballhausen, Alberto Burlina, Brian Fowler, Sarah C. Grünert, Stephanie Grünewald, Tomáš Honzík, B. Merinero, Celia Pérez‐Cerdá, Sabine Scholl‐Bürgi, Flemming Skovby, Frits A. Wijburg, Anita MacDonald, Diego Martinelli, Jörn Oliver Sass, Vassili Valayannopoulos, Anupam Chakrapani
Suggested guidelines for the diagnosis and management of urea cycle disorders
Johannes Häberle, Nathalie Boddaert, Alberto Burlina, Anupam Chakrapani, Marjorie Dixon, Martina Huemer, Daniela Karall, Diego Martinelli, Pablo Crespo, René Santer, Aude Servais, Vassili Valayannopoulos, Martin Lindner, Vicente Rubio, Carlo Dionisi‐Vici
On the Presence of 3-Hydroxytyramine in Brain
Arvid Carlsson, Margit Lindqvist, Tor Magnusson, Bertil Waldeck
Efficient direct chromosome analyses and enzyme determinations from chorionic villi samples in the first trimester of pregnancy
Giuseppe Simoni, B. Brambati, Cesare Danesino, F. Rossella, G. L. Terzoli, Maurizio Ferrari, M. Fraccaro
The dynamics of ammonia metabolism in man. Effects of liver disease and hyperammonemia.
Alan H. Lockwood, J. McDonald, Robert E. Reiman, Alan S. Gelbard, J. S. Laughlin, Thomas E. Duffy, F. Plum
Where is Metabolism and Genetic Disorders research published, and who funds it?
PICO Portalvenues & funding sources
TOP JOURNALS
TOP FUNDERS
National Science Foundation—
NIH—
Wellcome Trust—
European Research Council—
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How much of the research on Metabolism and Genetic Disorders is open access?
PICO Portalopen access share
67%OPEN ACCESS