Volume 41, 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 2018

15 articles in this issue

News and views
Sander M. Houten
Highlights 09 February 2018 Pages: 155 - 155
Propionyl-CoA carboxylase pcca-1 and pccb-1 gene deletions in Caenorhabditis elegans globally impair mitochondrial energy metabolism
Kimberly A. Chapman
Julian Ostrovsky
Marni J. Falk
Original Article 20 November 2017 Pages: 157 - 168
An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants
Ana Pop
Monique Williams
Gajja S. Salomons
Original Article Open access 13 December 2017 Pages: 169 - 180
Daily variation of NTBC and its relation to succinylacetone in tyrosinemia type 1 patients comparing a single dose to two doses a day
Nienke S. Kienstra
Hannah E. van Reemst
Francjan J. van Spronsen
Original Article Open access 23 November 2017 Pages: 181 - 186
A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturation
Simon Julius Mayr
Jörn Oliver Sass
Sarah Catharina Grünert
Original Article 24 January 2018 Pages: 187 - 196
Biochemical changes and clinical outcomes in 34 patients with classic galactosemia
Tatiana Yuzyuk
Krista Viau
Nicola Longo
Original Article 19 January 2018 Pages: 197 - 208
Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy
Alberto B. Burlina
Giulia Polo
Alessandro P. Burlina
Original Article 15 November 2017 Pages: 209 - 219
Neural cells generated from human induced pluripotent stem cells as a model of CNS involvement in mucopolysaccharidosis type II
Jitka Rybová
Jana Ledvinová
Robert Dobrovolný
Original Article 22 November 2017 Pages: 221 - 229
Priapism in a Fabry disease mouse model is associated with upregulated penile nNOS and eNOS expression
Xing-Li Meng
Erland Arning
Jin-Song Shen
Original Article 06 November 2017 Pages: 231 - 238
Globotriaosylsphingosine (Lyso-Gb₃) as a biomarker for cardiac variant (N215S) Fabry disease
Fahad J. Alharbi
Shanat Baig
Tarekegn Geberhiwot
Original Article 02 January 2018 Pages: 239 - 247
Coagulopathy in Zellweger spectrum disorders: a role for vitamin K
Sara Zeynelabidin
Femke C. C. Klouwer
C. Heleen van Ommen
Original Article Open access 14 November 2017 Pages: 249 - 255
Timing of cognitive decline in CLN3 disease
Willemijn F. E. Kuper
Claudia van Alfen
Peter M. van Hasselt
Original Article Open access 01 February 2018 Pages: 257 - 261
Correlation between the molecular effects of mutations at the dimer interface of alanine–glyoxylate aminotransferase leading to primary hyperoxaluria type I and the cellular response to vitamin B₆
Mirco Dindo
Elisa Oppici
Barbara Cellini
Original Article 06 November 2017 Pages: 263 - 275
Avascular necrosis after long-term glucocorticoid treatment in MELAS: a cautionary note
Han Som Choi
Jae Hyun Lee
Young-Mock Lee
Images in Metabolic Medicine 06 November 2017 Pages: 277 - 278
Skin lesions in a patient with Cobalamin C disease in poor metabolic control
Pankaj Prasun
Cristel Chapel-Crespo
George Diaz
Images in Metabolic Medicine 02 November 2017 Pages: 279 - 280

Volume 41, Issue 2

News and views

Propionyl-CoA carboxylase pcca-1 and pccb-1 gene deletions in Caenorhabditis elegans globally impair mitochondrial energy metabolism

An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants

Daily variation of NTBC and its relation to succinylacetone in tyrosinemia type 1 patients comparing a single dose to two doses a day

A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturation

Biochemical changes and clinical outcomes in 34 patients with classic galactosemia

Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy

Neural cells generated from human induced pluripotent stem cells as a model of CNS involvement in mucopolysaccharidosis type II

Priapism in a Fabry disease mouse model is associated with upregulated penile nNOS and eNOS expression

Globotriaosylsphingosine (Lyso-Gb₃) as a biomarker for cardiac variant (N215S) Fabry disease

Coagulopathy in Zellweger spectrum disorders: a role for vitamin K

Timing of cognitive decline in CLN3 disease

Correlation between the molecular effects of mutations at the dimer interface of alanine–glyoxylate aminotransferase leading to primary hyperoxaluria type I and the cellular response to vitamin B₆

Avascular necrosis after long-term glucocorticoid treatment in MELAS: a cautionary note

Skin lesions in a patient with Cobalamin C disease in poor metabolic control

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