Top 10 Most Cited Articles in 2022

  

Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision

Johannes Häberle, Alberto Burlina, Anupam Chakrapani, Marjorie Dixon, Daniela Karall, Martin Lindner, Hanna Mandel, Diego Martinelli, Guillem Pintos-Morell, René Santer, Anastasia Skouma, Aude Servais, Galit Tal, Vicente Rubio, Martina Huemer, Carlo Dionisi-Vici, 
Open access

Mitochondrial DNA mutation analysis from exome sequencing—A more holistic approach in diagnostics of suspected mitochondrial disease

Matias Wagner, Riccardo Berutti, Bettina Lorenz-Depiereux, Elisabeth Graf, Gertrud Eckstein, Johannes A. Mayr, Thomas Meitinger, Uwe Ahting, Holger Prokisch, Tim M. Strom, Saskia B. Wortmann, 
Open access

Guidelines for diagnosis and management of the cobalamin‐related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency

Martina Huemer, Daria Diodato, Bernd Schwahn, Manuel Schiff, Anabela Bandeira, Jean-Francois Benoist, Alberto Burlina, Roberto Cerone, Maria L. Couce, Angeles Garcia-Cazorla, Giancarlo la Marca, Elisabetta Pasquini, Laura Vilarinho, James D. Weisfeld-Adams, Viktor Kožich, Henk Blom, Matthias R. Baumgartner, Carlo Dionisi-Vici, 

An international classification of inherited metabolic disorders (ICIMD)

Carlos R. Ferreira, Shamima Rahman, Markus Keller, Johannes Zschocke, ICIMD Advisory Group, 
Open access

Transcranial electrical stimulation (tES) mechanisms and its effects on cortical excitability and connectivity

Thomas Reed, Roi Cohen Kadosh, 
Open access

Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision

Patrick Forny, Friederike Hörster, Diana Ballhausen, Anupam Chakrapani, Kimberly A. Chapman, Carlo Dionisi-Vici, Marjorie Dixon, Sarah C. Grünert, Stephanie Grunewald, Goknur Haliloglu, Michel Hochuli, Tomas Honzik, Daniela Karall, Diego Martinelli, Femke Molema, Jörn Oliver Sass, Sabine Scholl-Bürgi, Galit Tal, Monique Williams, Martina Huemer, Matthias R. Baumgartner, 
Open access

Guidelines for the diagnosis and management of cystathionine beta‐synthase deficiency

Andrew A. M. Morris, Viktor Kožich, Saikat Santra, Generoso Andria, Tawfeg I. M. Ben-Omran, Anupam B. Chakrapani, Ellen Crushell, Mick J. Henderson, Michel Hochuli, Martina Huemer, Miriam C. H. Janssen, Francois Maillot, Philip D. Mayne, Jenny McNulty, Tara M. Morrison, Helene Ogier, Siobhan O'Sullivan, Markéta Pavlíková, Isabel Tavares de Almeida, Allyson Terry, Sufin Yap, Henk J. Blom, Kimberly A. Chapman, 
Open access

Opportunities and challenges for antisense oligonucleotide therapies

Elsa C. Kuijper, Atze J. Bergsma, W.W.M. Pim Pijnappel, Annemieke Aartsma-Rus, 
Open access

Disorders affecting vitamin B6 metabolism

Matthew P. Wilson, Barbara Plecko, Philippa B. Mills, Peter T. Clayton,