Volume 38, 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.

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November 2015

18 articles in this issue

Quo vadis: the re-definition of “inborn metabolic diseases”
Eva Morava
Shamima Rahman
Johannes Zschocke
Editorial 29 September 2015 Pages: 1003 - 1006
Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines
Martina Huemer
Viktor Kožich
Henk J. Blom
Review Open access 12 March 2015 Pages: 1007 - 1019
Disturbance of redox homeostasis as a contributing underlying pathomechanism of brain and liver alterations in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
Guilhian Leipnitz
Carmen Regla Vargas
Moacir Wajner
Review 04 June 2015 Pages: 1021 - 1028
Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism
Marcus J. Miller
Adam D. Kennedy
Sarah H. Elsea
Original Article Open access 15 April 2015 Pages: 1029 - 1039
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
Stefan Kölker
Angeles Garcia Cazorla
Peter Burgard
Original Article 15 April 2015 Pages: 1041 - 1057
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
Stefan Kölker
Vassili Valayannopoulos
Angeles Garcia Cazorla
Original Article 15 April 2015 Pages: 1059 - 1074
Secondary NAD⁺ deficiency in the inherited defect of glutamine synthetase
Liyan Hu
Khalid Ibrahim
Johannes Häberle
Original Article 21 April 2015 Pages: 1075 - 1083
Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS
Jillian P. Casey
Suzanne Slattery
Ellen Crushell
Original Article 28 April 2015 Pages: 1085 - 1092
Alternative nighttime nutrition regimens in glycogen storage disease type I: a controlled crossover study
Michel Hochuli
Emanuel Christ
Matthias R. Baumgartner
Original Article 25 June 2015 Pages: 1093 - 1098
Clinical characteristics of megaconial congenital muscular dystrophy due to choline kinase beta gene defects in a series of 15 patients
Goknur Haliloglu
Beril Talim
Haluk Topaloglu
Original Article 12 June 2015 Pages: 1099 - 1108
Hypoxanthine deregulates genes involved in early neuronal development. Implications in Lesch-Nyhan disease pathogenesis
R. J. Torres
J. G. Puig
Original Article 05 May 2015 Pages: 1109 - 1118
Cognitive profile and activities of daily living: 35 patients with alpha-mannosidosis
L. Borgwardt
A. M. Thuesen
A. M. Lund
Original Article 28 May 2015 Pages: 1119 - 1127
A prospective 10-year study of individualized, intensified enzyme replacement therapy in advanced Fabry disease
Raphael Schiffmann
Caren Swift
Markus Ries
Original Article 22 April 2015 Pages: 1129 - 1136
Lack of phosphomannomutase 2 affects Xenopus laevis morphogenesis and the non-canonical Wnt5a/Ror2 signalling
Nastassja Himmelreich
Lilian T. Kaufmann
Christian Thiel
Original Article 04 July 2015 Pages: 1137 - 1146
Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy
François-Guillaume Debray
Claudia Stümpfig
Rudy van Coster
Original Article 14 May 2015 Pages: 1147 - 1153
Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
Stefan Kölker
Angeles Garcia Cazorla
Peter Burgard
Erratum 16 June 2015 Pages: 1155 - 1156
Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
Stefan Kölker
Vassili Valayannopoulos
Angeles Garcia Cazorla
Erratum 16 June 2015 Pages: 1157 - 1158
Elisabeth Holme
Gittan Kollberg
Peter Clayton
Obituary 29 September 2015 Pages: 1159 - 1160

Volume 38, Issue 6

Quo vadis: the re-definition of “inborn metabolic diseases”

Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines

Disturbance of redox homeostasis as a contributing underlying pathomechanism of brain and liver alterations in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

Secondary NAD⁺ deficiency in the inherited defect of glutamine synthetase

Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS

Alternative nighttime nutrition regimens in glycogen storage disease type I: a controlled crossover study

Clinical characteristics of megaconial congenital muscular dystrophy due to choline kinase beta gene defects in a series of 15 patients

Hypoxanthine deregulates genes involved in early neuronal development. Implications in Lesch-Nyhan disease pathogenesis

Cognitive profile and activities of daily living: 35 patients with alpha-mannosidosis

A prospective 10-year study of individualized, intensified enzyme replacement therapy in advanced Fabry disease

Lack of phosphomannomutase 2 affects Xenopus laevis morphogenesis and the non-canonical Wnt5a/Ror2 signalling

Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

Elisabeth Holme

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