• Issue

    Journal of Inherited Metabolic Disease: Volume 46, Issue 1

    1-157
    January 2023
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ISSUE INFORMATION

Free Access

Issue Information

  • First Published: 16 January 2023

EDITORIAL

Free Access

Genetic modifiers in glycosylation pathways: Is there a link between PMM2 and PGM1?

Dulce Quelhas,  Jaak Jaeken,  Luisa Azevedo, 
  • Pages: 1-2
  • First Published: 30 November 2022

REVIEW ARTICLE

Open Access

The role and control of arginine levels in arginase 1 deficiency

George A. Diaz,  Mark Bechter,  Stephen D. Cederbaum, 
  • Pages: 3-14
  • First Published: 29 September 2022

ORIGINAL ARTICLES

Open Access

Long-term anthropometric development of individuals with inherited metabolic diseases identified by newborn screening

Ulrike Mütze,  Sven F. Garbade,  Florian Gleich,  Martin Lindner,  Peter Freisinger,  Julia B. Hennermann,  Eva Thimm,  Gwendolyn Gramer,  Roland Posset,  Johannes Krämer,  Sarah C. Grünert,  Georg F. Hoffmann,  Stefan Kölker, 
  • Pages: 15-27
  • First Published: 22 September 2022
Open Access

Relief of CoA sequestration and restoration of mitochondrial function in a mouse model of propionic acidemia

Chitra Subramanian,  Matthew W. Frank,  Rajendra Tangallapally,  Mi-Kyung Yun,  Stephen W. White,  Richard E. Lee,  Charles O. Rock,  Suzanne Jackowski, 
  • Pages: 28-42
  • First Published: 17 October 2022
Relief of CoA sequestration and restoration of mitochondrial function in a mouse model of propionic acidemia

Outcome of infantile nephropathic cystinosis depends on early intervention, not genotype: A multicenter sibling cohort study

Koenraad Veys,  Ward Zadora,  Katharina Hohenfellner,  Detlef Bockenhauer,  Mirian C. H. Janssen,  Patrick Niaudet,  Aude Servais,  Rezan Topaloglu,  Martine Besouw,  Robert Novo,  Dieter Haffner,  Nele Kanzelmeyer,  Lars Pape,  Elke Wühl,  Erik Harms,  Atif Awan,  Przemyslaw Sikora,  Gema Ariceta,  Bert van den Heuvel,  Elena Levtchenko, 
  • Pages: 43-54
  • First Published: 18 September 2022

Excretion of excess nitrogen and increased survival by loss of SLC6A19 in a mouse model of ornithine transcarbamylase deficiency

Adam J. Belanger,  Estelle Gefteas,  Malgorzata Przybylska,  Sarah Geller,  Gülbenk Anarat-Cappillino,  Alla Kloss,  Nelson S. Yew, 
  • Pages: 55-65
  • First Published: 11 October 2022
Open Access

Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficit

Tessa M. A. Peters,  Jona Merx,  Pieter C. Kooijman,  Marek Noga,  Siebolt de Boer,  Loes A. van Gemert,  Guido Salden,  Udo F. H. Engelke,  Dirk J. Lefeber,  Rianne E. van Outersterp,  Giel Berden,  Thomas J. Boltje,  Rafael Artuch,  Leticia Pías-Peleteiro,  Ángeles García-Cazorla,  Ivo Barić,  Beat Thöny,  Jos Oomens,  Jonathan Martens,  Ron A. Wevers,  Marcel M. Verbeek,  Karlien L. M. Coene,  Michèl A. A. P. Willemsen, 
  • Pages: 66-75
  • First Published: 10 September 2022
Open Access

N-glycoproteomics reveals distinct glycosylation alterations in NGLY1-deficient patient-derived dermal fibroblasts

Rohit Budhraja,  Mayank Saraswat,  Diederik De Graef,  Wasantha Ranatunga,  Madan G. Ramarajan,  Jehan Mousa,  Tamas Kozicz,  Akhilesh Pandey,  Eva Morava, 
  • Pages: 76-91
  • First Published: 14 September 2022

DDOST-CDG: Clinical and molecular characterization of a third patient with a milder and a predominantly movement disorder phenotype

Ibrahim Elsharkawi,  Parith Wongkittichote,  Earnest James Paul Daniel,  Rodrigo Tzovenos Starosta,  Keisuke Ueda,  Bobby G. Ng,  Hudson H. Freeze,  Miao He,  Marwan Shinawi, 
  • Pages: 92-100
  • First Published: 10 October 2022
DDOST-CDG: Clinical and molecular characterization of a third patient with a milder and a predominantly movement disorder phenotype

Open Access

Lysosomal glycogen accumulation in Pompe disease results in disturbed cytoplasmic glycogen metabolism

Rodrigo Canibano-Fraile,  Laurike Harlaar,  Carlos A. dos Santos,  Marianne Hoogeveen-Westerveld,  Jeroen A. A. Demmers,  Tim Snijders,  Philip Lijnzaad,  Robert M. Verdijk,  Nadine A. M. E. van der Beek,  Pieter A. van Doorn,  Ans T. van der Ploeg,  Esther Brusse,  W. W. M. Pim Pijnappel,  Gerben J. Schaaf, 
  • Pages: 101-115
  • First Published: 16 September 2022
Lysosomal glycogen accumulation in Pompe disease results in disturbed cytoplasmic glycogen metabolism

Open Access

Sex-specific newborn screening for X-linked adrenoleukodystrophy

Monique Albersen,  Samantha L. van der Beek,  Inge M. E. Dijkstra,  Mariëlle Alders,  Rinse W. Barendsen,  Jet Bliek,  Anita Boelen,  Merel S. Ebberink,  Sacha Ferdinandusse,  Susan M. I. Goorden,  Annemieke C. Heijboer,  Mandy Jansen,  Yorrick R. J. Jaspers,  Ingrid Metgod,  Gajja S. Salomons,  Frédéric M. Vaz,  Rendelien K. Verschoof-Puite,  Wouter F. Visser,  Eugènie Dekkers,  Marc Engelen,  Stephan Kemp, 
  • Pages: 116-128
  • First Published: 18 October 2022
Sex-specific newborn screening for X-linked adrenoleukodystrophy

Open Access

Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine-dependent epilepsy

Lisa M. Crowther,  Martin Poms,  Martina Zandl-Lang,  Lucia Abela,  Hans Hartmann,  Michelle Seiler,  Déborah Mathis,  Barbara Plecko, 
  • Pages: 129-142
  • First Published: 12 October 2022

Characterization of cellular phenotypes in neurons derived from induced pluripotent stem cells of male patients with Fabry disease

Takashi Miyajima,  Ryo Saito,  Hiroko Yanagisawa,  Miki Igarashi,  Chen Wu,  Takeo Iwamoto,  Yoshikatsu Eto, 
  • Pages: 143-152
  • First Published: 11 October 2022

OBITUARY

Free to Read

Obituary for Dr. Lawrence “Larry” Sweetman, PhD, ABMG (1942–2022)

Bruce Barshop,  Mike Gibson,  Cornelis Jakobs,  Erland Arning, 
  • Page: 153
  • First Published: 07 December 2022
Free to Read

Obituary for Professor Michael Beck (1947–2022)

Markus Ries,  Eugen Mengel, 
  • Page: 154
  • First Published: 04 November 2022

ERRATUM

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Erratum

  • Page: 155
  • First Published: 05 December 2022

Free Access

Erratum

  • Page: 156
  • First Published: 16 January 2023

CORRIGENDUM

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CORRIGENDUM

  • Page: 157
  • First Published: 05 December 2022