Volume 41, Issue 1

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

January 2018

18 articles in this issue

Do inborn errors of metabolism confer or impede the risk of diabetes?
Verena Peters
Jerry Vockley
Editorial 11 December 2017 Pages: 1 - 2
The curse of idiopathic
Kevin J. O’Brien
William A. Gahl
Bernadette R. Gochuico
Letter to the Editors Open access 27 October 2017 Pages: 3 - 4
Metabolic pathways at the crossroads of diabetes and inborn errors
Eric S. Goetzman
Zhenwei Gong
Radhika H. Muzumdar
Review 26 September 2017 Pages: 5 - 17
Understanding childhood diabetes mellitus: new pathophysiological aspects
Juergen Grulich-Henn
Daniela Klose
Review 15 December 2017 Pages: 19 - 27
Role of protein carbonylation in diabetes
Markus Hecker
Andreas H. Wagner
Review 06 November 2017 Pages: 29 - 38
Carnosinase, diabetes mellitus and the potential relevance of carnosinase deficiency
Verena Peters
Johannes Zschocke
Claus P. Schmitt
Review 13 October 2017 Pages: 39 - 47
Investigating the link of ACAD10 deficiency to type 2 diabetes mellitus
Kaitlyn Bloom
Al-Walid Mohsen
Jerry Vockley
Original Article 24 January 2017 Pages: 49 - 57
Loss of sirtuin 4 leads to elevated glucose- and leucine-stimulated insulin levels and accelerated age-induced insulin resistance in multiple murine genetic backgrounds
Frank K. Huynh
Xiaoke Hu
Matthew D. Hirschey
Original Article 19 July 2017 Pages: 59 - 72
Lipoprotein-associated phospholipase A2 activity in obese adolescents with and without type 2 diabetes
Julia Seyfarth
Thomas Reinehr
Thomas Meissner
Original Article 13 October 2017 Pages: 73 - 79
Human heterologous liver cells transiently improve hyperammonemia and ureagenesis in individuals with severe urea cycle disorders
Jochen Meyburg
Thomas Opladen
Georg F. Hoffmann
Original Article 12 October 2017 Pages: 81 - 90
Impairment of astrocytic glutaminolysis in glutaric aciduria type I
Shoko Komatsuzaki
Raga Deepthi Ediga
Sven W. Sauer
Original Article 02 November 2017 Pages: 91 - 99
Isolated sulfite oxidase deficiency
Helena Claerhout
Peter Witters
Pieter Vermeersch
Original Article 04 October 2017 Pages: 101 - 108
Isolated aortic root dilation in homocystinuria
Massimiliano Lorenzini
Nishan Guha
Elaine Murphy
Original Article Open access 04 October 2017 Pages: 109 - 115
Impaired fertility and motor function in a zebrafish model for classic galactosemia
Jo M. Vanoevelen
Britt van Erven
M. Estela Rubio-Gozalbo
Original Article Open access 14 September 2017 Pages: 117 - 127
Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles
Alice Kuster
Jean-Baptiste Arnoux
Individual contributors who contributed to this work
Original Article 18 September 2017 Pages: 129 - 139
Phenotype, disease severity and pain are major determinants of quality of life in Fabry disease: results from a large multicenter cohort study
Maarten Arends
Simon Körver
Marieke Biegstraaten
Original Article Open access 16 October 2017 Pages: 141 - 149
Erratum to: Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project
Amel Karaa
Shamima Rahman
on behalf of the Mito Working Group Member Participants
Erratum 04 October 2017 Pages: 151 - 151
Erratum to: The presence of anaemia negatively influences survival in patients with POLG disease
Omar Hikmat
Charalampos Tzoulis
Laurence A. Bindoff
Erratum 26 September 2017 Pages: 153 - 153

Volume 41, Issue 1

Do inborn errors of metabolism confer or impede the risk of diabetes?

The curse of idiopathic

Metabolic pathways at the crossroads of diabetes and inborn errors

Understanding childhood diabetes mellitus: new pathophysiological aspects

Role of protein carbonylation in diabetes

Carnosinase, diabetes mellitus and the potential relevance of carnosinase deficiency

Investigating the link of ACAD10 deficiency to type 2 diabetes mellitus

Loss of sirtuin 4 leads to elevated glucose- and leucine-stimulated insulin levels and accelerated age-induced insulin resistance in multiple murine genetic backgrounds

Lipoprotein-associated phospholipase A2 activity in obese adolescents with and without type 2 diabetes

Human heterologous liver cells transiently improve hyperammonemia and ureagenesis in individuals with severe urea cycle disorders

Impairment of astrocytic glutaminolysis in glutaric aciduria type I

Isolated sulfite oxidase deficiency

Isolated aortic root dilation in homocystinuria

Impaired fertility and motor function in a zebrafish model for classic galactosemia

Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles

Phenotype, disease severity and pain are major determinants of quality of life in Fabry disease: results from a large multicenter cohort study

Erratum to: Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project

Erratum to: The presence of anaemia negatively influences survival in patients with POLG disease

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