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ISSUE INFORMATION

Free Access

Issue Information

  • First Published: 11 September 2022

ICIEM ARTICLES

Free Access

International Congress of Inborn Errors of Metabolism (ICIEM) Sydney 2021

Kaustuv Bhattacharya, 
  • Page: 863
  • First Published: 14 July 2022
Free Access

The right tool for the job—Fit for purpose training programs in adult metabolic medicine

Annalisa Sechi,  Elisa Fabbro,  Sandra Sirrs, 
  • Pages: 864-865
  • First Published: 05 May 2022
Free Access

View from inside: Patient advocacy in guiding policy development for metabolic disorders

Nicole Millis, 
  • Pages: 866-871
  • First Published: 23 June 2022

Treatment of metabolic disorders using genomic technologies: Lessons from methylmalonic acidemia

Leah E. Venturoni,  Charles P. Venditti, 
  • Pages: 872-888
  • First Published: 29 June 2022
Open Access

How longitudinal observational studies can guide screening strategy for rare diseases

Ulrike Mütze,  Katharina Mengler,  Nikolas Boy,  Florian Gleich,  Thomas Opladen,  Sven F. Garbade,  Stefan Kölker, 
  • Pages: 889-901
  • First Published: 29 April 2022
How longitudinal observational studies can guide screening strategy for rare diseases

Open Access

Reproductive genetic carrier screening and inborn errors of metabolism: The voice of the inborn errors of metabolism community needs to be heard

Edwin P. Kirk,  Martin B. Delatycki,  Nigel Laing, 
  • Pages: 902-906
  • First Published: 22 April 2022

Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases Program

Carolina Montano,  Thomas Cassini,  Shira G. Ziegler,  Manfred Boehm,  Elena-Raluca Nicoli,  Joseph A. Mindell,  Ariane G. Soldatos,  Irini Manoli,  Lynne Wolfe,  Ellen F. Macnamara,  May Christine V. Malicdan,  David R. Adams,  Cynthia J. Tifft,  Camilo Toro,  William A. Gahl, 
  • Pages: 907-918
  • First Published: 30 April 2022

Metabolic disease in the Pacific: Lessons for indigenous populations

Callum Wilson, 
  • Pages: 919-925
  • First Published: 10 March 2022
Metabolic disease in the Pacific: Lessons for indigenous populations

Open Access

The role of ERNDIM diagnostic proficiency schemes in improving the quality of diagnostic testing for inherited metabolic diseases

Déborah Mathis,  Joanne Croft,  Petr Chrastina,  Brian Fowler,  Christine Vianey-Saban,  George J. G. Ruijter, 
  • Pages: 926-936
  • First Published: 13 May 2022

ORIGINAL ARTICLES

Open Access

Very long-term outcomes in 23 patients with cblA type methylmalonic acidemia

Cecilia Marelli,  Alain Fouilhoux,  Jean-Francois Benoist,  Pascale De Lonlay,  Nathalie Guffon-Fouilhoux,  Anais Brassier,  Aline Cano,  Brigitte Chabrol,  Alessandra Pennisi,  Manuel Schiff,  Cecile Acquaviva,  Elaine Murphy,  Aude Servais,  Robin Lachmann, 
  • Pages: 937-951
  • First Published: 26 May 2022
Open Access

Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway

Kimber van Vliet,  Willem G. van Ginkel,  Rianne Jahja,  Anne Daly,  Anita MacDonald,  Saikat Santra,  Corinne De Laet,  Philippe J. Goyens,  Roshni Vara,  Yusof Rahman,  David Cassiman,  Francois Eyskens,  Corrie Timmer,  Nicky Mumford,  Paul Gissen,  Jörgen Bierau,  Peter M. van Hasselt,  Gisela Wilcox,  Andrew A. M. Morris,  Elisabeth A. Jameson,  Alicia de la Parra,  Carolina Arias,  Maria I. Garcia,  Veronica Cornejo,  Annet M. Bosch,  Carla E. M. Hollak,  M. Estela Rubio-Gozalbo,  Martijn C. G. J. Brouwers,  Floris C. Hofstede,  Maaike C. de Vries,  Mirian C. H. Janssen,  Ans T. van der Ploeg,  Janneke G. Langendonk,  Stephan C. J. Huijbregts,  Francjan J. van Spronsen, 
  • Pages: 952-962
  • First Published: 20 June 2022

Pregnancy in cystinosis patients with chronic kidney disease: A European case series

Aude Servais,  Mirian C. H. Janssen,  Hannah Blakey,  Marcella Greco,  Sandrine Lemoine,  Paloma L. Martin-Moreno,  David Game,  Elena Levtchenko,  Graham Lipkin, on behalf of the Metabolic Nephropathy Workgroup of the European Reference Network for Rare Kidney Diseases (ERKNet) and the ERA working groups on inherited kidney diseases (WGIKD) , 
  • Pages: 963-968
  • First Published: 17 June 2022
Pregnancy in cystinosis patients with chronic kidney disease: A European case series

ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelines

Daniah Albokhari,  Bobby G. Ng,  Alis Guberinic,  Earnest James Paul Daniel,  Nicole M. Engelhardt,  Rita Barone,  Agata Fiumara,  Livia Garavelli,  Gabriele Trimarchi,  Lynne Wolfe,  Kimiyo M. Raymond,  Eva Morava,  Miao He,  Hudson H. Freeze,  Christina Lam,  Andrew C. Edmondson, 
  • Pages: 969-980
  • First Published: 18 June 2022
Open Access

Eye movement disorders in inborn errors of metabolism: A quantitative analysis of 37 patients

Lisette H. Koens,  Inge Tuitert,  Hans Blokzijl,  Marc Engelen,  Femke C. C. Klouwer,  Fiete Lange,  Wilhelmina G. Leen,  Roelineke J. Lunsing,  Johannes H. T. M. Koelman,  Aad Verrips,  Tom J. de Koning,  Marina A. J. Tijssen, 
  • Pages: 981-995
  • First Published: 27 June 2022

A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families

Mythily Ganapathi,  Gaelle Friocourt,  Naig Gueguen,  Marisa W. Friederich,  Gerald Le Gac,  Volkan Okur,  Nadège Loaëc,  Thomas Ludwig,  Chandran Ka,  Kurenai Tanji,  Pascale Marcorelles,  Evangelos Theodorou,  Angela Lignelli-Dipple,  Cécile Voisset,  Melissa A. Walker,  Lauren C. Briere,  Amélie Bourhis,  Marc Blondel,  Charles LeDuc,  Jacob Hagen,  Cathleen Cooper,  Colleen Muraresku,  Claude Ferec,  Armelle Garenne,  Servane Lelez-Soquet,  Cassandra A. Rogers,  Yufeng Shen,  Dana K. Strode,  Peyman Bizargity,  Alejandro Iglesias,  Amy Goldstein,  Frances A. High,  Undiagnosed Diseases Network,  David A. Sweetser,  Rebecca Ganetzky,  Johan L. K. Van Hove,  Vincent Procaccio,  Cedric Le Marechal,  Wendy K. Chung, 
  • Pages: 996-1012
  • First Published: 27 May 2022

OBITUARY

Free to Read

Obituary for Prof. Alberto Ponzone

Francesco Porta,  Alessandro Mussa,  Silvio Ferraris,  Giovanni Battista Ferrero,  Marco Spada, 
  • Page: 1013
  • First Published: 17 July 2022