• Issue

    Journal of Inherited Metabolic Disease: Volume 41, Issue 2

    155-280
    March 2018
Previous Issue|Next Issue
Export Citation(s)Download PDF(s)

Highlights

News and views

Sander M. Houten, 
  • Page: 155
  • First Published: 09 February 2018

Original Articles

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

Kimberly A. Chapman,  Julian Ostrovsky,  Meera Rao,  Stephen D. Dingley,  Erzsebet Polyak,  Marc Yudkoff,  Rui Xiao,  Michael J. Bennett,  Marni J. Falk, 
  • Pages: 157-168
  • First Published: 20 November 2017
Open Access

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

Ana Pop,  Monique Williams,  Eduard A. Struys,  Magnus Monné,  Erwin E. W. Jansen,  Anna De Grassi,  Warsha A. Kanhai,  Pasquale Scarcia,  Matilde R. Fernandez Ojeda,  Vito Porcelli,  Silvy J. M. van Dooren,  Pascal Lennertz,  Benjamin Nota,  Jose E. Abdenur,  David Coman,  Anibh Martin Das,  Areeg El-Gharbawy,  Jean-Marc Nuoffer,  Branka Polic,  René Santer,  Natalie Weinhold,  Britton Zuccarelli,  Ferdinando Palmieri,  Luigi Palmieri,  Gajja S. Salomons, 
  • Pages: 169-180
  • First Published: 13 December 2017
Open Access

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,  Willem G. van Ginkel,  Anne Daly,  Esther van Dam,  Anita MacDonald,  Johannes G. M. Burgerhof,  Pim de Blaauw,  Patrick J. McKiernan,  M. Rebecca Heiner-Fokkema,  Francjan J. van Spronsen, 
  • Pages: 181-186
  • First Published: 23 November 2017

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

Simon Julius Mayr,  Jörn Oliver Sass,  Julia Vry,  Janbernd Kirschner,  Irina Mader,  Jan-Bernd Hövener,  Jochen Reiss,  José Angel Santamaria-Araujo,  Günter Schwarz,  Sarah Catharina Grünert, 
  • Pages: 187-196
  • First Published: 24 January 2018

Biochemical changes and clinical outcomes in 34 patients with classic galactosemia

Tatiana Yuzyuk,  Krista Viau,  Ashley Andrews,  Marzia Pasquali,  Nicola Longo, 
  • Pages: 197-208
  • First Published: 19 January 2018

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

Alberto B. Burlina,  Giulia Polo,  Leonardo Salviati,  Giovanni Duro,  Carmela Zizzo,  Andrea Dardis,  Bruno Bembi,  Chiara Cazzorla,  Laura Rubert,  Roberta Zordan,  Robert J. Desnick,  Alessandro P. Burlina, 
  • Pages: 209-219
  • First Published: 15 November 2017

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

Jitka Rybová,  Jana Ledvinová,  Jakub Sikora,  Ladislav Kuchař,  Robert Dobrovolný, 
  • Pages: 221-229
  • First Published: 22 November 2017

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

Xing-Li Meng,  Erland Arning,  Mary Wight-Carter,  Taniqua S. Day,  Siamak Jabbarzadeh-Tabrizi,  Shuyuan Chen,  Robin J. Ziegler,  Teodoro Bottiglieri,  Jay W. Schneider,  Seng H. Cheng,  Raphael Schiffmann,  Jin-Song Shen, 
  • Pages: 231-238
  • First Published: 06 November 2017

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

Fahad J. Alharbi,  Shanat Baig,  Christiane Auray-Blais,  Michel Boutin,  Douglas G. Ward,  Nigel Wheeldon,  Rick Steed,  Charlotte Dawson,  Derralynn Hughes,  Tarekegn Geberhiwot, 
  • Pages: 239-247
  • First Published: 02 January 2018
Open Access

Coagulopathy in Zellweger spectrum disorders: a role for vitamin K

Sara Zeynelabidin,  Femke C. C. Klouwer,  Joost C. M. Meijers,  Monique H. Suijker,  Marc Engelen,  Bwee Tien Poll-The,  C. Heleen van Ommen, 
  • Pages: 249-255
  • First Published: 14 November 2017
Open Access

Timing of cognitive decline in CLN3 disease

Willemijn F. E. Kuper,  Claudia van Alfen,  Roeliene H. Rigterink,  Sabine A. Fuchs,  Maria M. van Genderen,  Peter M. van Hasselt, 
  • Pages: 257-261
  • First Published: 01 February 2018

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,  Daniele Dell'Orco,  Rosa Montone,  Barbara Cellini, 
  • Pages: 263-275
  • First Published: 06 November 2017

Images In Metabolic Medicine

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

Han Som Choi,  Jae Hyun Lee,  Sun Ho Lee,  Young-Mock Lee, 
  • Pages: 277-278
  • First Published: 06 November 2017

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

Pankaj Prasun,  Cristel Chapel-Crespo,  Amy Williamson,  Paul Chu,  Kimihiko Oishi,  George Diaz, 
  • Pages: 279-280
  • First Published: 02 November 2017