Volume 39, 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 2016

16 articles in this issue

News and views
Sander M. Houten
Highlights 05 October 2016 Pages: 761 - 762
News and views
Peter Witters
Highlights 05 October 2016 Pages: 763 - 764
Immunological aspects of congenital disorders of glycosylation (CDG): a review
Maria Monticelli
Tiago Ferro
Paula A. Videira
Review 08 July 2016 Pages: 765 - 780
Differential diagnosis of lipoic acid synthesis defects
Frederic Tort
Xènia Ferrer-Cortes
Antonia Ribes
SSIEM 2015 01 September 2016 Pages: 781 - 793
Correlation of blood biomarkers with age informs pathomechanisms in succinic semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism
E. E. Jansen
K. R. Vogel
K. M. Gibson
Rapid Communication 29 September 2016 Pages: 795 - 800
Angiogenesis in alkaptonuria
Lia Millucci
Giulia Bernardini
Annalisa Santucci
Original Article 26 September 2016 Pages: 801 - 806
A small molecule inhibitor of mutant IDH2 rescues cardiomyopathy in a D-2-hydroxyglutaric aciduria type II mouse model
Fang Wang
Jeremy Travins
Shengfang Jin
Original Article Open access 28 July 2016 Pages: 807 - 820
Expanding the phenotype of hawkinsinuria: new insights from response to N-acetyl-L-cysteine
Natalia Gomez-Ospina
Anna I. Scott
Tina M. Cowan
Original Article 03 August 2016 Pages: 821 - 829
Treatment with pentosan polysulphate in patients with MPS I: results from an open label, randomized, monocentric phase II study
Julia B. Hennermann
Seyfullah Gökce
Calogera M. Simonaro
Original Article 02 September 2016 Pages: 831 - 837
Impact of long-term elosulfase alfa treatment on respiratory function in patients with Morquio A syndrome
Christian J. Hendriksz
Kenneth I. Berger
Paul R. Harmatz
Original Article Open access 23 August 2016 Pages: 839 - 847
The second report of a new hypomyelinating disease due to a defect in the VPS11 gene discloses a massive lysosomal involvement
Konstanze Hörtnagel
Inge Krägeloh-Mann
Klaus Harzer
Original Article Open access 29 July 2016 Pages: 849 - 857
Cholic acid therapy in Zellweger spectrum disorders
Kevin Berendse
Femke C. C. Klouwer
Bwee Tien Poll-The
Original Article Open access 28 July 2016 Pages: 859 - 868
Diagnostic and prognostic value of in vivo proton MR spectroscopy for Zellweger syndrome spectrum patients
H. Rosewich
P. Dechent
J. Gärtner
Original Article 03 August 2016 Pages: 869 - 876
mTOR inhibitors rescue premature lethality and attenuate dysregulation of GABAergic/glutamatergic transcription in murine succinate semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism
Kara R. Vogel
Garrett R. Ainslie
K. Michael Gibson
Original Article 12 August 2016 Pages: 877 - 886
Large soft-tissue masses in an adult patient with Gaucher disease
Neha Mahajan
Russell Brynes
Shoji Yano
Images in Metabolic Medicine 09 August 2016 Pages: 887 - 888
Rapid resolution of infantile lipemia retinalis following exchange transfusion
Cara E. Capitena
Holly J. Wagoner
James D. Weisfeld-Adams
Images in Metabolic Medicine 12 August 2016 Pages: 889 - 890

Volume 39, Issue 6

News and views

News and views

Immunological aspects of congenital disorders of glycosylation (CDG): a review

Differential diagnosis of lipoic acid synthesis defects

Correlation of blood biomarkers with age informs pathomechanisms in succinic semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism

Angiogenesis in alkaptonuria

A small molecule inhibitor of mutant IDH2 rescues cardiomyopathy in a D-2-hydroxyglutaric aciduria type II mouse model

Expanding the phenotype of hawkinsinuria: new insights from response to N-acetyl-L-cysteine

Treatment with pentosan polysulphate in patients with MPS I: results from an open label, randomized, monocentric phase II study

Impact of long-term elosulfase alfa treatment on respiratory function in patients with Morquio A syndrome

The second report of a new hypomyelinating disease due to a defect in the VPS11 gene discloses a massive lysosomal involvement

Cholic acid therapy in Zellweger spectrum disorders

Diagnostic and prognostic value of in vivo proton MR spectroscopy for Zellweger syndrome spectrum patients

mTOR inhibitors rescue premature lethality and attenuate dysregulation of GABAergic/glutamatergic transcription in murine succinate semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism

Large soft-tissue masses in an adult patient with Gaucher disease

Rapid resolution of infantile lipemia retinalis following exchange transfusion

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