Journal of Inherited Metabolic Disease

Official Journal of the Society for the Study of Inborn Errors of Metabolism

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Journal of Inherited Metabolic Disease is now archived and no longer receiving submissions with this publisher. All articles published in the journal during its time with Springer will remain fully searchable through our websites.

Articles

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Showing 1-50 of 5,486 articles

Correction to: Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease
A. Papandreou
S. Rahman
Manju A. Kurian
Correction 19 November 2018 Pages: 1299 - 1301
Next-generation glycogen storage diseases
Terry G. J. Derks
Maaike H. Oosterveer
Carolina F. De Souza
Editorial Open access 23 November 2018 Pages: 911 - 912
Synaptic metabolism and brain circuitries in inborn errors of metabolism
Àngels García-Cazorla
Rafael Artuch
Àlex Bayès
Editorial 28 November 2018 Pages: 909 - 910
Response letter
Youngmok Lee
Janice Y. Chou
David A. Weinstein
LETTER TO THE EDITOR 27 September 2018 Pages: 915 - 915
Letter to the Editors: Concerning “Long-term safety and efficacy of AAV gene therapy in the canine model of glycogen storage disease type Ia” by Lee et al.
Elizabeth D. Brooks
Priya S. Kishnani
Dwight D. Koeberl
Letter to the Editors 25 September 2018 Pages: 913 - 914
View from inside
Faye Wylie
Editorial 24 September 2018 Pages: 905 - 907
The diagnostic challenge in very-long chain acyl-CoA dehydrogenase deficiency (VLCADD)
Julia Hesse
Carina Braun
Sara Tucci
Original Article 07 September 2018 Pages: 1169 - 1178
Editorial
Robin Lachmann
Carla Hollak
Editorial 13 December 2018 Pages: 899 - 900
Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry
Martina Huemer
Daria Diodato
J. Weisfeld-Adams
Original Article 03 September 2018
Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease
A. Papandreou
S. Rahman
Manju A. Kurian
Original Article Open access 30 August 2018 Pages: 1275 - 1283
Fibroblast growth factor 21 as a biomarker for long-term complications in organic acidemias
F. Molema
E. H. Jacobs
Monique Williams
Original Article Open access 29 August 2018 Pages: 1179 - 1187
Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population
Tina Shirzadeh
Amir Hossein Saeidian
Additional individual contributors
Original Article 29 August 2018 Pages: 1159 - 1167
Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study
Claudio Semplicini
Pascaline Letard
French Pompe Study Group
Glycogen Storage Disease 28 August 2018 Pages: 937 - 946
Clinical effectiveness of enzyme replacement therapy with galsulfase in mucopolysaccharidosis type VI treatment: systematic review
Dalila Fernandes Gomes
Luciana Guerra Gallo
Everton Nunes da Silva
Review 22 August 2018
Disulfiram enhanced delivery of orally administered copper into the central nervous system in Menkes disease mouse model
Takao Hoshina
Satoshi Nozaki
Yasuyoshi Watanabe
Original Article 21 August 2018 Pages: 1285 - 1291
Setting the stage for a role of the postsynaptic proteome in inherited neurometabolic disorders
Àlex Bayés
Review Open access 21 August 2018 Pages: 1093 - 1101
Allogeneic haematopoietic stem cell transplantation with myeloablative conditioning for adult cerebral X-linked adrenoleukodystrophy
Nils Waldhüter
Wolfgang Köhler
Jörn-Sven Kühl
Original Article 21 August 2018
Index of Authors

Abstracts 20 August 2018 Pages: 221 - 243
Oral Presentations

Abstracts 20 August 2018 Pages: 37 - 219
Oral Presentations

Abstracts 20 August 2018 Pages: 1 - 36
Craniosynostosis affects the majority of mucopolysaccharidosis patients and can contribute to increased intracranial pressure
Esmee Oussoren
Irene M. J. Mathijssen
Mirjam Langeveld
Original Article Open access 06 August 2018 Pages: 1247 - 1258
Improvement in bone marrow infiltration in patients with type I Gaucher disease treated with taliglucerase alfa
Ari Zimran
Tama Dinur
Mario Maas
Original Article Open access 31 July 2018 Pages: 1259 - 1265
Correction to: Medical and financial burden of acute intermittent porphyria
Rochus A. Neeleman
Margreet A. E. M. Wagenmakers
Janneke G. Langendonk
Correction 27 July 2018 Pages: 1297 - 1298
Long-term complications of glycogen storage disease type Ia in the canine model treated with gene replacement therapy
Elizabeth D. Brooks
Dustin J. Landau
Dwight D. Koeberl
Glycogen Storage Disease 24 July 2018 Pages: 965 - 976
The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: a common epileptic encephalopathy
Curtis R. Coughlin II
Michael A. Swanson
Johan L. K. Van Hove
Original Article 24 July 2018
Correction to: Manifesting heterozygotes in McArdle disease: a myth or a reality-role of statins
Judit Núñez-Manchón
Alfonsina Ballester-Lopez
Gisela Nogales-Gadea
Correction 20 July 2018 Pages: 1295 - 1295
Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi-based international workshop
Saskia Koene
Lara van Bon
Jan Smeitink
Original Article Open access 19 July 2018 Pages: 1267 - 1273
Presynaptic disorders: a clinical and pathophysiological approach focused on the synaptic vesicle
Elisenda Cortès-Saladelafont
Noa Lipstein
Àngels García-Cazorla
Original Article 18 July 2018 Pages: 1131 - 1145
Synaptic metabolism: a new approach to inborn errors of neurotransmission
Alba Tristán-Noguero
Àngels García-Cazorla
Review 16 July 2018 Pages: 1065 - 1075
Cellular neurometabolism: a tentative to connect cell biology and metabolism in neurology
Àngels García-Cazorla
Jean-Marie Saudubray
Review Open access 16 July 2018 Pages: 1043 - 1054
Transcranial electrical stimulation (tES) mechanisms and its effects on cortical excitability and connectivity
Thomas Reed
Roi Cohen Kadosh
Review Open access 13 July 2018 Pages: 1123 - 1130
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
Emil Kakkis
Original Article Open access 09 July 2018
Induced pluripotent stem cells (iPSCs) as model to study inherited defects of neurotransmission in inborn errors of metabolism
Sabine Jung-Klawitter
Thomas Opladen
Review 06 July 2018 Pages: 1103 - 1116
The efficacy of intracerebroventricular idursulfase-beta enzyme replacement therapy in mucopolysaccharidosis II murine model: heparan sulfate in cerebrospinal fluid as a clinical biomarker of neuropathology
Young Bae Sohn
Ah-Ra Ko
Dong-Kyu Jin
Original Article 05 July 2018 Pages: 1235 - 1246
Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience
Marta Batllori
Marta Molero-Luis
Rafael Artuch
Original Article 04 July 2018 Pages: 1147 - 1158
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
Additional individual contributors of the UCDC and the E-IMD consortium
Original Article 04 July 2018
Development and characterization of an inducible mouse model for glycogen storage disease type Ib
Federica Raggi
Anna Livia Pissavino
Alessandra Eva
Glycogen Storage Disease 02 July 2018 Pages: 1015 - 1025
View from inside
Jyoti Halai
Editorial 02 July 2018 Pages: 901 - 903
A new opportunity: metabolism and neuropsychiatric disorders
Tamas Kozicz
E. Morava
Editorial 28 June 2018 Pages: 583 - 584
Manifesting heterozygotes in McArdle disease: a myth or a reality—role of statins
Judit Núñez-Manchón
Alfonsina Ballester-Lopez
Gisela Nogales-Gadea
Glycogen Storage Disease 20 June 2018 Pages: 1027 - 1035
Long-term evaluation of urinary copper excretion and non-caeruloplasmin associated copper in Wilson disease patients under medical treatment
Jan Pfeiffenberger
Christine Marie Lohse
Annika Gauss
Original Article 20 June 2018
Newborn screening for homocystinurias: recent recommendations versus current practice
R. Keller
P. Chrastina
M. Zeyda
Original Article 15 June 2018
Postsynaptic movement disorders: clinical phenotypes, genotypes, and disease mechanisms
Lucia Abela
Manju A. Kurian
Review Open access 13 June 2018 Pages: 1077 - 1091
Oxygen in mitochondrial disease: can there be too much of a good thing?
Vamsi K. Mootha
Patrick F. Chinnery
Letter to the Editors 08 June 2018 Pages: 761 - 763
The phenotype of adult versus pediatric patients with inborn errors of metabolism
Jean-Marie Saudubray
Fanny Mochel
Letter to the editors 06 June 2018 Pages: 753 - 756
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
Philippe Jouvet
Original Article 05 June 2018
The effectiveness of enzyme replacement therapy for juvenile-onset Pompe disease: a systematic review
Joanne Milverton
Skye Newton
Tracy Merlin
Review Open access 05 June 2018
Lipids and synaptic functions
Fanny Mochel
Review 04 June 2018 Pages: 1117 - 1122
Metabolism of amino acid neurotransmitters: the synaptic disorder underlying inherited metabolic diseases
Stefan Kölker
Review 04 June 2018 Pages: 1055 - 1063
Polycystic kidney features of the renal pathology in glycogen storage disease type I: possible evolution to renal neoplasia
Monika Gjorgjieva
Laure Monteillet
Fabienne Rajas
Glycogen Storage Disease 04 June 2018 Pages: 955 - 963

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