• Issue

    Journal of Inherited Metabolic Disease: Volume 43, Issue 2

    157-381
    March 2020
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ISSUE INFORMATION

Free Access

Issue Information

  • First Published: 03 March 2020

LETTER

Concerning “Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child with Cobalamin Deficiency Suggests Digenic Inheritance of the MTR and LMBRD1 Genes” by Farwell Gonzalez et al.

Leighann Sremba,  Shawn McCandless,  Peter Baker II, 
  • Pages: 157-158
  • First Published: 04 August 2019

Concerning “Genetic defects of thiamine transport and metabolism: a review of clinical phenotypes, genetics and functional studies” by Marcé-Grau et al

GianPietro Sechi, 
  • Pages: 159-160
  • First Published: 11 July 2019

EDITORIAL

Free Access

View from inside: Tália's story

Shanalle Bacarese-Hamilton,  Andrew Bacarese-Hamilton, 
  • Pages: 161-166
  • First Published: 15 January 2020

REVIEW ARTICLES

Phenylketonuria, co-morbidity, and ageing: A review

Emma R.L.C. Vardy,  Anita MacDonald,  Suzanne Ford,  Denise L. Hofman, 
  • Pages: 167-178
  • First Published: 01 November 2019

Performance of laboratory tests used to measure blood phenylalanine for the monitoring of patients with phenylketonuria

Stuart J. Moat,  Danja Schulenburg-Brand,  Hugh Lemonde,  James R. Bonham,  Cas W. Weykamp,  Joanne V. Mei,  Graham S. Shortland,  Rachel S. Carling, 
  • Pages: 179-188
  • First Published: 21 August 2019

Tetrahydrobiopterin treatment in phenylketonuria: A repurposing approach

Roeland A. F. Evers,  Danique van Vliet,  Francjan J. van Spronsen, 
  • Pages: 189-199
  • First Published: 01 August 2019
Open Access

Inborn errors of enzymes in glutamate metabolism

Lynne Rumping,  Esmee Vringer,  Roderick H. J. Houwen,  Peter M. van Hasselt,  Judith J. M. Jans,  Nanda M. Verhoeven-Duif, 
  • Pages: 200-215
  • First Published: 11 October 2019
Open Access

Glucose transporter type 1 deficiency syndrome and the ketogenic diet

Marit Schwantje,  Lilly M. Verhagen,  Peter M. van Hasselt,  Sabine A. Fuchs, 
  • Pages: 216-222
  • First Published: 12 October 2019

Nonimmune hydrops fetalis and congenital disorders of glycosylation: A systematic literature review

Mona M. Makhamreh,  Naiga Cottingham,  Carlos R. Ferreira,  Seth Berger,  Huda B. Al-Kouatly, 
  • Pages: 223-233
  • First Published: 17 August 2019

ORIGINAL ARTICLES

Long-term outcome of methylmalonic aciduria after kidney, liver, or combined liver-kidney transplantation: The French experience

Anaïs Brassier,  Pauline Krug,  Florence Lacaille,  Clément Pontoizeau,  Saoussen Krid,  Samira Sissaoui,  Aude Servais,  Jean-Baptiste Arnoux,  Christophe Legendre,  Marina Charbit,  Anne Scemla,  Claire Francoz,  Jean-François Benoist,  Manuel Schiff,  Fanny Mochel,  Guy Touati,  Pierre Broué,  Aline Cano,  Marine Tardieu,  Stefania Querciagrossa,  David Grévent,  Olivia Boyer,  Laurent Dupic,  Mehdi Oualha,  Muriel Girard,  Yves Aigrain,  Dominique Debray,  Carmen Capito,  Chris Ottolenghi,  Rémi Salomon,  Christophe Chardot,  Pascale de Lonlay, 
  • Pages: 234-243
  • First Published: 16 September 2019

The first European guidelines on phenylketonuria: Usefulness and implications for BH4 responsiveness testing

Roeland A. F. Evers BSc,  Annemiek M. J. van Wegberg MSc,  Karen Anjema MD,  Charlotte M. A. Lubout MD,  Esther van Dam MSc,  Danique van Vliet MD,  Nenad Blau PhD,  Francjan J. van Spronsen MD, PhD, 
  • Pages: 244-250
  • First Published: 10 September 2019
Open Access

Bone mineral density is within normal range in most adult phenylketonuria patients

Charlotte M. A. Lubout,  Francisco Arrieta Blanco,  Katarzyna Bartosiewicz,  François Feillet,  Maria Gizewska,  Carla Hollak,  Johanna H. van der Lee,  François Maillot,  Karolina M. Stepien,  Margreet A. E. M. Wagenmakers,  Mendy M. Welsink-Karssies,  Francjan J. van Spronsen,  Annet M. Bosch, 
  • Pages: 251-258
  • First Published: 06 October 2019
Bone mineral density is within normal range in most adult phenylketonuria patients

Open Access

Dietary restriction of tyrosine and phenylalanine lowers tyrosinemia associated with nitisinone therapy of alkaptonuria

Juliette H. Hughes,  Peter J. M. Wilson,  Hazel Sutherland,  Shirley Judd,  Andrew T. Hughes,  Anna M. Milan,  Jonathan C. Jarvis,  George Bou-Gharios,  Lakshminarayan R. Ranganath,  James A. Gallagher, 
  • Pages: 259-268
  • First Published: 10 September 2019

Cornstarch requirements of the adult glycogen storage disease Ia population: A retrospective review

Kathryn R. Dahlberg,  Iris A. Ferrecchia,  Monika Dambska-Williams,  Traci E. Resler,  Katalin M. Ross,  Gail L. Butler,  Chia-Ling Kuo,  Patrick T. Ryan,  David A. Weinstein, 
  • Pages: 269-278
  • First Published: 15 August 2019
Open Access

Research priorities for liver glycogen storage disease: An international priority setting partnership with the James Lind Alliance

Fabian Peeks,  Willemijn F. Boonstra,  Lut de Baere,  Camilla Carøe,  Thomas Casswall,  Damián Cohen,  Katherine Cowan,  Iris Ferrecchia,  Alberto Ferriani,  Caroline Gimbert,  Marcus Landgren,  Nerea L. Maldonado,  Jason McMillan,  Antal Nemeth,  Niccolò Seidita,  Ute Stachelhaus-Theimer,  David A. Weinstein,  Terry G. J. Derks, 
  • Pages: 279-289
  • First Published: 06 October 2019

Increased risk of sudden death in untreated primary carnitine deficiency

Jan Rasmussen,  Morten Dunø,  Allan M. Lund,  Ulrike Steuerwald,  Steen-Holger Hansen,  Høgni D. Joensen,  Lars Køber,  Olav W. Nielsen, 
  • Pages: 290-296
  • First Published: 01 August 2019
Open Access

Clinical presentation and proteomic signature of patients with TANGO2 mutations

Nadja Mingirulli,  Angela Pyle,  Denisa Hathazi,  Charlotte L. Alston,  Nicolai Kohlschmidt,  Gina O'Grady,  Leigh Waddell,  Frances Evesson,  Sandra B. T. Cooper,  Christian Turner,  Jennifer Duff,  Ana Topf,  Delia Yubero,  Cristina Jou,  Andrés Nascimento,  Carlos Ortez,  Angels García-Cazorla,  Claudia Gross,  Maria O'Callaghan,  Saikat Santra,  Maryanne A. Preece,  Michael Champion,  Sergei Korenev,  Efsthatia Chronopoulou,  Majumdar Anirban,  Germaine Pierre,  Daniel McArthur,  Kyle Thompson,  Placido Navas,  Antonia Ribes,  Frederic Tort,  Agatha Schlüter,  Aurora Pujol,  Raquel Montero,  Georgia Sarquella,  Hanns Lochmüller,  Cecilia Jiménez-Mallebrera,  Robert W. Taylor,  Rafael Artuch,  Janbernd Kirschner,  Sarah C. Grünert,  Andreas Roos,  Rita Horvath, 
  • Pages: 297-308
  • First Published: 24 July 2019

Free urinary glycosylated hydroxylysine as an indicator of altered collagen degradation in the mucopolysaccharidoses

Nina Patel,  Philippa Mills,  James Davison,  Maureen Cleary,  Paul Gissen,  Blerida Banushi,  Ivan Doykov,  Megan Dorman,  Kevin Mills,  Wendy E. Heywood, 
  • Pages: 309-317
  • First Published: 26 August 2019

Detailed profile of cognitive dysfunction in children with aspartylglucosaminuria

Elina Leena Harjunen,  Minna Laine,  Ritva Tikkanen,  Päivi Helenius, 
  • Pages: 318-325
  • First Published: 15 August 2019

Fabry disease genotype, phenotype, and migalastat amenability: Insights from a national cohort

Albina Nowak,  Uyen Huynh-Do,  Pierre-Alexandre Krayenbuehl,  Felix Beuschlein,  Raphael Schiffmann,  Frédéric Barbey, 
  • Pages: 326-333
  • First Published: 26 August 2019

Neutralising anti-drug antibodies in Fabry disease can inhibit endothelial enzyme uptake and activity

Franciska Stappers,  David Scharnetzki,  Boris Schmitz,  Dominique Manikowski,  Stefan-Martin Brand,  Kay Grobe,  Malte Lenders,  Eva Brand, 
  • Pages: 334-347
  • First Published: 06 October 2019

Central nervous system complications in adult cystinosis patients

Aude Servais,  Ana Saitovitch,  Aurélie Hummel,  Jennifer Boisgontier,  Anne Scemla,  Rebecca Sberro-Soussan,  Renaud Snanoudj,  Hervé Lemaitre,  Christophe Legendre,  Clément Pontoizeau,  Corinne Antignac,  Dany Anglicheau,  Benoît Funalot,  Nathalie Boddaert, 
  • Pages: 348-356
  • First Published: 24 August 2019

Fetal bovine serum impacts the observed N-glycosylation defects in TMEM165 KO HEK cells

Dorothée Vicogne,  Marine Houdou,  Anne Garat,  Leslie Climer,  Vladimir Lupashin,  Willy Morelle,  François Foulquier, 
  • Pages: 357-366
  • First Published: 15 August 2019

Early neurodevelopmental characterization in children with cobalamin C/defect

Daniela Ricci,  Diego Martinelli,  Gloria Ferrantini,  Simona Lucibello,  MLuigia Gambardella,  Giorgia Olivieri,  Daniela Chieffo,  Domenica Battaglia,  Daria Diodato,  Giancarlo Iarossi,  Alice M. Donati,  Carlo Dionisi-Vici,  Roberta Battini,  Eugenio M. Mercuri, 
  • Pages: 367-374
  • First Published: 10 September 2019

IMAGES IN METABOLIC MEDICINE

Reduction of large soft-tissue Gaucheromas with substrate reduction therapy

Neha Mahajan,  Mikako Warren,  Shoji Yano, 
  • Pages: 375-376
  • First Published: 09 November 2019

OBITUARY

Free to Read

Takashi Hashimoto, Professor Emeritus at the Department of Biochemistry, Shinshu University Graduate School of Medicine, Matsumoto, Japan (b 14 March 1933; q 1962 at the University of Tokyo; d 18 April 2019; Japan)

Toshiyuki Fukao,  Seiji Yamaguchi,  Yasuyuki Suzuki,  Nobuyuki Shimozawa,  Tadao Orii,  Ronald J. A. Wanders, 
  • Pages: 377-378
  • First Published: 28 January 2020
Free to Read

Jan Kraus PhD., Professor of Pediatrics at the University of Colorado Anschutz Medical Campus, Aurora, CO, USA (b London, UK, June 5, 1942; q 1965 Faculty of Science Prague, d July 4, 2019, CO, USA)

Brian Fowler,  Viktor Kožich, 
  • Pages: 379-380
  • First Published: 03 March 2020

CORRIGENDUM

Free Access

Corrigendum

  • Page: 381
  • First Published: 05 August 2019