Volume 41, Issue 6

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.

Search all Journal of Inherited Metabolic Disease articles

November 2018

46 articles in this issue

View from inside
Jyoti Halai
Editorial 02 July 2018 Pages: 901 - 903
View from inside
Faye Wylie
Editorial 24 September 2018 Pages: 905 - 907
Synaptic metabolism and brain circuitries in inborn errors of metabolism
Àngels García-Cazorla
Rafael Artuch
Àlex Bayès
Editorial 28 November 2018 Pages: 909 - 910
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
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
Response letter
Youngmok Lee
Janice Y. Chou
David A. Weinstein
LETTER TO THE EDITOR 27 September 2018 Pages: 915 - 915
Role of continuous glucose monitoring in the management of glycogen storage disorders
Mrudu Herbert
Surekha Pendyal
Priya S. Kishnani
Glycogen Storage Disease 25 May 2018 Pages: 917 - 927
A preliminary study of telemedicine for patients with hepatic glycogen storage disease and their healthcare providers: from bedside to home site monitoring
Irene J. Hoogeveen
Fabian Peeks
Terry G. J. Derks
Glycogen Storage Disease Open access 29 March 2018 Pages: 929 - 936
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
Dental and periodontal manifestations of glycogen storage diseases: a case series of 60 patients
Martin Biosse Duplan
Aurélie Hubert
Philippe Labrune
Glycogen Storage Disease 16 April 2018 Pages: 947 - 953
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
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
Long-term safety and efficacy of AAV gene therapy in the canine model of glycogen storage disease type Ia
Young Mok Lee
Thomas J. Conlon
David A. Weinstein
Glycogen Storage Disease 25 May 2018 Pages: 977 - 984
Insulin-resistance in glycogen storage disease type Ia: linking carbohydrates and mitochondria?
Alessandro Rossi
Margherita Ruoppolo
Daniela Melis
Original Article 12 February 2018 Pages: 985 - 995
Sirtuin signaling controls mitochondrial function in glycogen storage disease type Ia
Jun-Ho Cho
Goo-Young Kim
Janice Y. Chou
Glycogen Storage Disease 08 May 2018 Pages: 997 - 1006
Molecular biology and gene therapy for glycogen storage disease type Ib
Janice Y. Chou
Jun-Ho Cho
Brian C. Mansfield
GLYCOGEN STORAGE DISEASE 16 April 2018 Pages: 1007 - 1014
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
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
Non-osteogenic muscle hypertrophy in children with McArdle disease
I. Rodríguez-Gómez
A. Santalla
I. Ara
Glycogen Storage Disease 28 March 2018 Pages: 1037 - 1042
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
Metabolism of amino acid neurotransmitters: the synaptic disorder underlying inherited metabolic diseases
Stefan Kölker
Review 04 June 2018 Pages: 1055 - 1063
Synaptic metabolism: a new approach to inborn errors of neurotransmission
Alba Tristán-Noguero
Àngels García-Cazorla
Review 16 July 2018 Pages: 1065 - 1075
Postsynaptic movement disorders: clinical phenotypes, genotypes, and disease mechanisms
Lucia Abela
Manju A. Kurian
Review Open access 13 June 2018 Pages: 1077 - 1091
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
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
Lipids and synaptic functions
Fanny Mochel
Review 04 June 2018 Pages: 1117 - 1122
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
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
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
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
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
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
Newborn screening for Pompe disease: impact on families
B. Pruniski
E. Lisi
N. Ali
Original Article 28 March 2018 Pages: 1189 - 1203
Long-term follow-up of 17 patients with childhood Pompe disease treated with enzyme replacement therapy
Jan C. van der Meijden
Michelle E. Kruijshaar
Ans T. van der Ploeg
Original Article Open access 19 March 2018 Pages: 1205 - 1214
Efficacy and safety of Velmanase alfa in the treatment of patients with alpha-mannosidosis: results from the core and extension phase analysis of a phase III multicentre, double-blind, randomised, placebo-controlled trial
Line Borgwardt
Nathalie Guffon
Allan M. Lund
Original Article Open access 30 May 2018 Pages: 1215 - 1223
Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosis
Allan M. Lund
Line Borgwardt
Nathalie Guffon
Original Article Open access 03 May 2018 Pages: 1225 - 1233
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
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
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
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
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
Severe ichthyosis in MPDU1-CDG
Christian Thiel
Saskia Wortmann
Felix Distelmaier
Images in Metabolic Medicine 02 May 2018 Pages: 1293 - 1294
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
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
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

Volume 41, Issue 6

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