Volume 40, 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 2017

16 articles in this issue

News and views
Sander M. Houten
Highlights 21 September 2017 Pages: 755 - 756
Liver involvement in urea cycle disorders: a review of the literature
Adrien Bigot
Michel C. Tchan
François Maillot
Review 12 September 2017 Pages: 757 - 769
Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX)
Gerald Salen
Robert D. Steiner
Review Open access 04 October 2017 Pages: 771 - 781
Long-term metabolic follow-up and clinical outcome of 35 patients with maple syrup urine disease
Marie-Thérèse Abi-Wardé
Célina Roda
Pascale de Lonlay
Original Article 13 September 2017 Pages: 783 - 792
Predictability and inconsistencies in the cognitive outcome of early treated PKU patients
Filippo Manti
Francesca Nardecchia
Vincenzo Leuzzi
Original Article 23 August 2017 Pages: 793 - 799
Critical appraisal of genotype assessment in molybdenum cofactor deficiency
Katrin Hinderhofer
Konstantin Mechler
Markus Ries
Original Article 12 September 2017 Pages: 801 - 811
Rigor of non-dairy galactose restriction in early childhood, measured by retrospective survey, does not associate with severity of five long-term outcomes quantified in 231 children and adults with classic galactosemia
Allison B. Frederick
David J. Cutler
Judith L. Fridovich-Keil
Original Article Open access 10 July 2017 Pages: 813 - 821
PRKAG2 mutations presenting in infancy
Rachel D. Torok
Stephanie L. Austin
Priya S. Kishnani
Original Article 11 August 2017 Pages: 823 - 830
Triheptanoin versus trioctanoin for long-chain fatty acid oxidation disorders: a double blinded, randomized controlled trial
Melanie B. Gillingham
Stephen B. Heitner
Jerry Vockley
Original Article 04 September 2017 Pages: 831 - 843
Heterozygous carriers of succinyl-CoA:3-oxoacid CoA transferase deficiency can develop severe ketoacidosis
Hideo Sasai
Yuka Aoyama
Toshiyuki Fukao
Original Article 10 July 2017 Pages: 845 - 852
A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients
Ewa Pronicka
Mariola Ropacka-Lesiak
Additional individual contributors
Original Article Open access 07 July 2017 Pages: 853 - 860
The presence of anaemia negatively influences survival in patients with POLG disease
Omar Hikmat
Tzoulis Charalampos
Laurence A. Bindoff
Original Article 01 September 2017 Pages: 861 - 866
Survival in idursulfase-treated and untreated patients with mucopolysaccharidosis type II: data from the Hunter Outcome Survey (HOS)
Barbara K. Burton
Virginie Jego
Simon A. Jones
Original Article Open access 08 September 2017 Pages: 867 - 874
Evaluation of C26:0-lysophosphatidylcholine and C26:0-carnitine as diagnostic markers for Zellweger spectrum disorders
Femke C. C. Klouwer
Sacha Ferdinandusse
Frédéric M. Vaz
Original Article Open access 04 July 2017 Pages: 875 - 881
Vitamin B6 is essential for serine de novo biosynthesis
Rúben J. Ramos
Mia L. Pras-Raves
Nanda M. Verhoeven-Duif
Original Article Open access 11 August 2017 Pages: 883 - 891
K. Sarafoglou, G. F. Hoffmann, K. S. Roth (eds): Pediatric endocrinology and inborn errors of metabolism. Second edition
Manuel Schiff
Book Review 31 August 2017 Pages: 893 - 893

Volume 40, Issue 6

News and views

Liver involvement in urea cycle disorders: a review of the literature

Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX)

Long-term metabolic follow-up and clinical outcome of 35 patients with maple syrup urine disease

Predictability and inconsistencies in the cognitive outcome of early treated PKU patients

Critical appraisal of genotype assessment in molybdenum cofactor deficiency

Rigor of non-dairy galactose restriction in early childhood, measured by retrospective survey, does not associate with severity of five long-term outcomes quantified in 231 children and adults with classic galactosemia

PRKAG2 mutations presenting in infancy

Triheptanoin versus trioctanoin for long-chain fatty acid oxidation disorders: a double blinded, randomized controlled trial

Heterozygous carriers of succinyl-CoA:3-oxoacid CoA transferase deficiency can develop severe ketoacidosis

A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients

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

Survival in idursulfase-treated and untreated patients with mucopolysaccharidosis type II: data from the Hunter Outcome Survey (HOS)

Evaluation of C26:0-lysophosphatidylcholine and C26:0-carnitine as diagnostic markers for Zellweger spectrum disorders

Vitamin B6 is essential for serine de novo biosynthesis

K. Sarafoglou, G. F. Hoffmann, K. S. Roth (eds): Pediatric endocrinology and inborn errors of metabolism. Second edition

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