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Metabolism and Genetic Disorders
TopicLeading institutions, researchers & key papers
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.
334
Works
IDs:OpenAlex
How has Metabolism and Genetic Disorders's publication output changed over time?
ScholarIQpublication output · 1984–2021
Output grew0% over the shown period — from 1 works in 1984 to 1 in 2021.
1
1
1
1
2
1
1
2
1
1
1984199119992002201120122014201520202021
What are the most-cited papers on Metabolism and Genetic Disorders?
ScholarIQmost 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
Orphanet Journal of Rare Diseases. 2014728 CitationsOPEN ACCESS
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
Orphanet Journal of Rare Diseases. 2012634 CitationsOPEN ACCESS
On the Presence of 3-Hydroxytyramine in Brain
Arvid Carlsson, Margit Lindqvist, Tor Magnusson, Bertil Waldeck
Science. 1958627 Citations
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
S199832308. 1983486 Citations
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
S114430552. 1979409 CitationsOPEN ACCESS
Where is Metabolism and Genetic Disorders research published, and who funds it?
ScholarIQvenues & funding sources
TOP JOURNALS
TOP FUNDERS
National Science Foundation—
NIH—
Wellcome Trust—
European Research Council—
Funder breakdown is a member featureSign up free to unlock
How much of the research on Metabolism and Genetic Disorders is open access?
ScholarIQopen access share
67%OPEN ACCESS
Gold
20%
Green
27%
Hybrid
0%
Bronze
20%
Closed
33%
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Optimal clinical management of children receiving dietary therapies for epilepsy: Updated recommendations of the International Ketogenic Diet Study Group
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