Volume 39, Issue 5

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

September 2016

20 articles in this issue

News and views
Sander M. Houten
Highlights 04 July 2016 Pages: 593 - 594
News and views
Peter Witters
Highlights 28 July 2016 Pages: 595 - 595
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder
Sophie Collardeau-Frachon
Marie-Pierre Cordier
Christine Vianey-Saban
SSIEM 2015 22 April 2016 Pages: 597 - 610
Antenatal manifestations of inborn errors of metabolism: biological diagnosis
Christine Vianey-Saban
Cécile Acquaviva
Roseline Froissart
SSIEM 2015 08 July 2016 Pages: 611 - 624
Genetic cause and prevalence of hydroxyprolinemia
Christian Staufner
Tobias B. Haack
Stefan Kölker
Rapid Communication 02 May 2016 Pages: 625 - 632
Appropriateness of newborn screening for classic galactosaemia: a systematic review
L. Varela-Lema
L. Paz-Valinas
M. López-García
Review 26 April 2016 Pages: 633 - 649
Rapid quantification of underivatized amino acids in plasma by hydrophilic interaction liquid chromatography (HILIC) coupled with tandem mass-spectrometry
Hubertus C. M. T. Prinsen
B. G. M. Schiebergen-Bronkhorst
N. M. Verhoeven-Duif
Original Article Open access 21 April 2016 Pages: 651 - 660
Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders
Roland Posset
Angeles Garcia-Cazorla
Additional individual contributors of the E-IMD consortium
Original Article 22 April 2016 Pages: 661 - 672
Tyrosinemia type I and not treatment with NTBC causes slower learning and altered behavior in mice
Megan A. Hillgartner
Sarah B. Coker
Gordon G. MacGregor
Original Article 06 June 2016 Pages: 673 - 682
Qualitative urinary organic acid analysis: 10 years of quality assurance
Verena Peters
James R. Bonham
Claus-Dieter Langhans
Original Article 04 May 2016 Pages: 683 - 687
Expanding the molecular diversity and phenotypic spectrum of glycerol 3-phosphate dehydrogenase 1 deficiency
Carlo Dionisi-Vici
Eyal Shteyer
Yair Anikster
Original Article 01 July 2016 Pages: 689 - 695
Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome
Christiaan P. Sentner
Irene J. Hoogeveen
Terry G. J. Derks
Original Article Open access 22 April 2016 Pages: 697 - 704
International Paediatric Mitochondrial Disease Scale
Saskia Koene
Jan C. M. Hendriks
Jan A. M. Smeitink
Original Article Open access 09 June 2016 Pages: 705 - 712
ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies
Eva Morava
Vera Tiemes
Ron A. Wevers
Original Article 10 June 2016 Pages: 713 - 723
A novel method for determining peroxisomal fatty acid β-oxidation
Masashi Morita
Shun Matsumoto
Tsuneo Imanaka
Original Article 20 June 2016 Pages: 725 - 731
The value of plasma vitamin B₆ profiles in early onset epileptic encephalopathies
Déborah Mathis
Lucia Abela
Barbara Plecko
Original Article 24 June 2016 Pages: 733 - 741
Phenotyping GABA transaminase deficiency: a case description and literature review
Pedro Louro
Lina Ramos
Paula Garcia
Original Article 04 July 2016 Pages: 743 - 747
On the origin of 3-methylglutaconic acid in disorders of mitochondrial energy metabolism
Nikita Ikon
Robert O. Ryan
Letter 18 April 2016 Pages: 749 - 756
Erratum to: Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism
Marcus J. Miller
Adam D. Kennedy
Sarah H. Elsea
Erratum 25 May 2016 Pages: 757 - 757
Erratum to: ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies
Eva Morava
Vera Tiemes
Ron A. Wevers
Erratum 08 August 2016 Pages: 759 - 759

Volume 39, Issue 5

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