• Issue

    Journal of Inherited Metabolic Disease: Volume 42, Issue 1

    1-194
    January 2019
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Issue Information

Free Access

Issue Information

  • First Published: 11 February 2019

Editorials

Free Access

On being an editor, reviewer, and author—different sides of the same coin

Peter Burgard PD Dr,  Verena Peters PD Dr, 
  • Pages: 1-2
  • First Published: 11 February 2019
Free Access

The phenotype modifier: is the mitochondrial DNA background responsible for individual differences in disease severity

Eva Morava,  Tamas Kozicz,  Douglas C Wallace, 
  • Pages: 3-4
  • First Published: 11 February 2019

Reviews

International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up

Ruqaiah Altassan,  Romain Péanne,  Jaak Jaeken,  Rita Barone,  Muad Bidet,  Delphine Borgel,  Sandra Brasil,  David Cassiman,  Anna Cechova,  David Coman,  Javier Corral,  Joana Correia,  María Eugenia de la Morena-Barrio,  Pascale de Lonlay,  Vanessa Dos Reis,  Carlos R Ferreira,  Agata Fiumara,  Rita Francisco,  Hudson Freeze,  Simone Funke,  Thatjana Gardeitchik,  Matthijs Gert,  Muriel Girad,  Marisa Giros,  Stephanie Grünewald,  Trinidad Hernández-Caselles,  Tomas Honzik,  Marlen Hutter,  Donna Krasnewich,  Christina Lam,  Joy Lee,  Dirk Lefeber,  Dorinda Marques-da-Silva,  Antonio F Martinez-Monseny,  Hossein Moravej,  Katrin Õunap,  Carlota Pascoal,  Tiffany Pascreau,  Marc Patterson,  Dulce Quelhas,  Kimiyo Raymond,  Peymaneh Sarkhail,  Manuel Schiff,  Małgorzata Seroczyńska,  Mercedes Serrano,  Nathalie Seta,  Jolanta Sykut-Cegielska,  Christian Thiel,  Federic Tort,  Mari-Anne Vals,  Paula Videira,  Peter Witters,  Renate Zeevaert,  Eva Morava, 
  • Pages: 5-28
  • First Published: 11 February 2019

Keeping an eye on congenital disorders of O-glycosylation: A systematic literature review

Rita Francisco,  Carlota Pascoal,  Dorinda Marques-da-Silva,  Eva Morava,  Glen A. Gole,  David Coman,  Jaak Jaeken,  Vanessa dos Reis Ferreira, 
  • Pages: 29-48
  • First Published: 11 February 2019

Inborn errors of coenzyme A metabolism and neurodegeneration

Ivano Di Meo,  Miryam Carecchio,  Valeria Tiranti, 
  • Pages: 49-56
  • First Published: 11 February 2019
Open Access

The effectiveness of enzyme replacement therapy for juvenile-onset Pompe disease: A systematic review

Joanne Milverton,  Skye Newton,  Tracy Merlin, 
  • Pages: 57-65
  • First Published: 11 February 2019

Clinical effectiveness of enzyme replacement therapy with galsulfase in mucopolysaccharidosis type VI treatment: Systematic review

Dalila Fernandes Gomes,  Luciana Guerra Gallo,  Betânia Ferreira Leite,  Roberta Borges Silva,  Everton Nunes da Silva, 
  • Pages: 66-76
  • First Published: 11 February 2019

Original Articles

Influence of implementing a protocol for an intravenously administered ammonia scavenger on the management of acute hyperammonemia in a pediatric intensive care unit

David Brossier,  Isabelle Goyer,  Lydia Ziani,  Christopher Marquis,  Grant Mitchell,  Bruno Ozanne,  Philippe Jouvet, 
  • Pages: 77-85
  • First Published: 11 February 2019

The decision to discontinue screening for carnitine uptake disorder in New Zealand

Callum Wilson,  Detlef Knoll,  Mark de Hora,  Campbell Kyle,  Emma Glamuzina,  Dianne Webster, 
  • Pages: 86-92
  • First Published: 11 February 2019

Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases

Roland Posset,  Sven F. Garbade,  Nikolas Boy,  Alberto B. Burlina,  Carlo Dionisi-Vici,  Dries Dobbelaere,  Angeles Garcia-Cazorla,  Pascale de Lonlay,  Elisa Leão Teles,  Roshni Vara,  Nicholas Ah Mew,  Mark L. Batshaw,  Matthias R. Baumgartner,  Shawn E. McCandless,  Jennifer Seminara,  Marshall Summar,  Georg F. Hoffmann,  Stefan Kölker,  Peter Burgard,  Additional individual contributors of the UCDC and the E-IMD consortium , 
  • Pages: 93-106
  • First Published: 11 February 2019

Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort

Alina Levtova,  Paula J. Waters,  Daniela Buhas,  Sébastien Lévesque,  Christiane Auray-Blais,  Joe T.R. Clarke,  Rachel Laframboise,  Bruno Maranda,  Grant A. Mitchell,  Catherine Brunel-Guitton,  Nancy E. Braverman, 
  • Pages: 107-116
  • First Published: 11 February 2019

Patterns, evolution, and severity of striatal injury in insidious- vs acute-onset glutaric aciduria type 1

Nikolas Boy,  Sven F. Garbade,  Jana Heringer,  Angelika Seitz,  Stefan Kölker,  Inga Harting, 
  • Pages: 117-127
  • First Published: 11 February 2019

Newborn screening for homocystinurias: Recent recommendations versus current practice

Rebecca Keller,  Petr Chrastina,  Markéta Pavlíková,  Sofía Gouveia,  Antonia Ribes,  Stefan Kölker,  Henk J. Blom,  Matthias R. Baumgartner,  Josef Bártl,  Carlo Dionisi-Vici,  Florian Gleich,  Andrew A. Morris,  Viktor Kožich,  Martina Huemer,  and individual contributors of the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD) ,  Ivo Barić,  Tawfeq Ben-Omran,  Javier Blasco-Alonso,  Maria A. Bueno Delgado,  Claudia Carducci,  Michela Cassanello,  Roberto Cerone,  Maria Luz Couce,  Ellen Crushell,  Carmen Delgado Pecellin,  Elena Dulin,  Mercedes Espada,  Giulio Ferino,  Ralph Fingerhut,  Immaculada Garcia Jimenez,  Immaculada Gonzalez Gallego,  Yolanda González-Irazabal,  Gwendolyn Gramer,  Maria Jesus Juan Fita,  Eszter Karg,  Jeanette Klein,  Vassiliki Konstantopoulou,  Giancarlo la Marca,  Elisa Leão Teles,  Vincenzo Leuzzi,  Franco Lilliu,  Rosa Maria Lopez,  Allan M. Lund,  Philip Mayne,  Silvia Meavilla,  Stuart J. Moat,  Jürgen G. Okun,  Elisabeta Pasquini,  Consuélo Carmen Pedron-Giner,  Gabor Zoltan Racz,  Maria Angeles Ruiz Gomez,  Laura Vilarinho,  Raquel Yahyaoui,  Moja Zerjav Tansek,  Rolf H. Zetterström,  Maximilian Zeyda, 
  • Pages: 128-139
  • First Published: 11 February 2019

Characteristics and outcomes of patients with formiminoglutamic aciduria detected through newborn screening

Rebecca C. Ahrens-Nicklas,  Rebecca D. Ganetzky,  Peggy W. Rush,  Robert L. Conway,  Can Ficicioglu, 
  • Pages: 140-146
  • First Published: 11 February 2019

Open Access

Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients

Monique Williams,  Vassili Valayannopoulos,  Ruqaiah Altassan,  Wendy K. Chung,  Annemieke C. Heijboer,  Wei Teik Keng,  Risto Lapatto,  Patricia McClean,  Margot F. Mulder,  Anna Tylki-Szymańska,  Marie-Jose E. Walenkamp,  Majid Alfadhel,  Hajar Alakeel,  Gajja S. Salomons,  Wafaa Eyaid,  Mirjam M. C. Wamelink, 
  • Pages: 147-158
  • First Published: 11 February 2019
Open Access

Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency

Jeannette C. Bleeker,  Irene L. Kok,  Sacha Ferdinandusse,  Maaike de Vries,  Terry G.J. Derks,  Margot F. Mulder,  Monique Williams,  Estela Rubio Gozalbo,  Annet M. Bosch,  Dorine T. van den Hurk,  Monique G.M. de Sain-van der Velden,  Hans R. Waterham,  Frits A. Wijburg,  Gepke Visser, 
  • Pages: 159-168
  • First Published: 11 February 2019
Open Access

Results from a 78-week, single-arm, open-label phase 2 study to evaluate UX007 in pediatric and adult patients with severe long-chain fatty acid oxidation disorders (LC-FAOD)

Jerry Vockley,  Barbara Burton,  Gerard T. Berry,  Nicola Longo,  John Phillips,  Amarilis Sanchez-Valle,  Pranoot Tanpaiboon,  Stephanie Grunewald,  Elaine Murphy,  Alexandra Bowden,  Wencong Chen,  Chao-Yin Chen,  Jason Cataldo,  Deborah Marsden,  Emil Kakkis, 
  • Pages: 169-177
  • First Published: 11 February 2019

Inhibiting PNP for the therapy of hyperuricemia in Lesch–Nyhan disease: Preliminary in vitro studies with analogues of immucillin-G

Gabriella Jacomelli,  Eva Baldini,  Claudia Mugnaini,  Vanna Micheli,  Giulia Bernardini,  Annalisa Santucci, 
  • Pages: 178-185
  • First Published: 11 February 2019

Identification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyria

Brenden Chen,  Constanza Solis-Villa,  Angelika L. Erwin,  Manisha Balwani,  Irina Nazarenko,  John D. Phillips,  Robert J. Desnick,  Makiko Yasuda, 
  • Pages: 186-194
  • First Published: 11 February 2019