Volume 40, Issue 2

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

March 2017

16 articles in this issue

News and views
Sander M. Houten
Highlights 01 December 2016 Pages: 167 - 168
The galactosemia network (GalNet)
M. E. Rubio-Gozalbo
A. M. Bosch
Steering Committee on behalf of all Galactosemia Network representatives
Letter to the Editors 11 November 2016 Pages: 169 - 170
International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up
Lindsey Welling
Laurie E. Bernstein
On behalf of the Galactosemia Network (GalNet)
Guidelines Open access 17 November 2016 Pages: 171 - 176
Small molecules as therapeutic agents for inborn errors of metabolism
Leslie Matalonga
Laura Gort
Antonia Ribes
SSIEM 2015 13 December 2016 Pages: 177 - 193
Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature
D. Marques-da-Silva
V. dos Reis Ferreira
D. Cassiman
Review 20 January 2017 Pages: 195 - 207
Long-term outcome of expanded newborn screening at Boston children’s hospital: benefits and challenges in defining true disease
Yuval E. Landau
Susan E. Waisbren
Harvey L. Levy
Original Article 04 January 2017 Pages: 209 - 218
Analysis of the functional muscle–bone unit of the forearm in patients with phenylketonuria by peripheral quantitative computed tomography
Daniela Choukair
Carolin Kneppo
Burkhard Tönshoff
Original Article 22 November 2016 Pages: 219 - 226
Multicompartment analysis of protein-restricted phenylketonuric mice reveals amino acid imbalances in brain
Kara R. Vogel
Erland Arning
K. Michael Gibson
Original Article 19 October 2016 Pages: 227 - 235
Ketogenic diet in pyruvate dehydrogenase complex deficiency: short- and long-term outcomes
Kalliopi Sofou
Maria Dahlin
Niklas Darin
Original Article Open access 18 January 2017 Pages: 237 - 245
Is 2D speckle tracking echocardiography useful for detecting and monitoring myocardial dysfunction in adult m.3243A>G carriers? — a retrospective pilot study
S. Koene
J. Timmermans
L. Kapusta
Original Article Open access 04 January 2017 Pages: 247 - 259
A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders
Lisa G. Riley
Mark J. Cowley
John Christodoulou
Original Article 19 December 2016 Pages: 261 - 269
Mortality after hematopoietic stem cell transplantation for severe mucopolysaccharidosis type I: the 30-year University of Minnesota experience
Nathan J. Rodgers
Alexander M. Kaizer
Elizabeth A. Braunlin
Original Article 04 January 2017 Pages: 271 - 280
Angiotensin receptor blockade mediated amelioration of mucopolysaccharidosis type I cardiac and craniofacial pathology
Mark J. Osborn
Beau R. Webber
Elizabeth A. Braunlin
Original Article 14 October 2016 Pages: 281 - 289
Flunarizine rescues reduced lifespan in CLN3 triple knock-out Caenorhabditis elegans model of batten disease
Young Joon Kwon
Marni J. Falk
Michael J. Bennett
Original Article 20 October 2016 Pages: 291 - 296
Functional characterization of missense mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression system
Patricie Burda
Terttu Suormala
Matthias R. Baumgartner
Original Article 14 October 2016 Pages: 297 - 306
Nenad Blau (ed.). Phenylketonuria and BH4 deficiencies
Avihu Boneh
Book Review 06 February 2017 Pages: 307 - 307

Volume 40, Issue 2

News and views

The galactosemia network (GalNet)

International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up

Small molecules as therapeutic agents for inborn errors of metabolism

Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature

Long-term outcome of expanded newborn screening at Boston children’s hospital: benefits and challenges in defining true disease

Analysis of the functional muscle–bone unit of the forearm in patients with phenylketonuria by peripheral quantitative computed tomography

Multicompartment analysis of protein-restricted phenylketonuric mice reveals amino acid imbalances in brain

Ketogenic diet in pyruvate dehydrogenase complex deficiency: short- and long-term outcomes

Is 2D speckle tracking echocardiography useful for detecting and monitoring myocardial dysfunction in adult m.3243A>G carriers? — a retrospective pilot study

A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders

Mortality after hematopoietic stem cell transplantation for severe mucopolysaccharidosis type I: the 30-year University of Minnesota experience

Angiotensin receptor blockade mediated amelioration of mucopolysaccharidosis type I cardiac and craniofacial pathology

Flunarizine rescues reduced lifespan in CLN3 triple knock-out Caenorhabditis elegans model of batten disease

Functional characterization of missense mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression system

Nenad Blau (ed.). Phenylketonuria and BH4 deficiencies

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