Volume 40, Issue 3

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

May 2017

20 articles in this issue

News and views
Sander M. Houten
Highlights 04 April 2017 Pages: 309 - 310
Losartan improves aortic dilatation and cardiovascular disease in mucopolysaccharidosis I
Esteban Alberto Gonzalez
Angela Maria Vicente Tavares
Guilherme Baldo
Letter to the Editors 03 February 2017 Pages: 311 - 312
NTCP deficiency and persistently raised bile salts: an adult case
Filip Van Herpe
Hans R. Waterham
David Cassiman
Letter to the Editors 10 March 2017 Pages: 313 - 315
Very long-chain acyl-CoA dehydrogenase (VLCAD-) deficiency–studies on treatment effects and long-term outcomes in mouse models
Sara Tucci
Metabolic Dissertation 28 February 2017 Pages: 317 - 323
Sweet and sour: an update on classic galactosemia
Ana I. Coelho
M. Estela Rubio-Gozalbo
Isabel Rivera
Review Open access 09 March 2017 Pages: 325 - 342
Enzyme replacement therapy and beyond—in memoriam Roscoe O. Brady, M.D. (1923–2016)
Markus Ries
Review 17 March 2017 Pages: 343 - 356
Expanding the phenotype in argininosuccinic aciduria: need for new therapies
Julien Baruteau
Elisabeth Jameson
James E. Davison
Original Article Open access 01 March 2017 Pages: 357 - 368
Household financial burden of phenylketonuria and its impact on treatment in China: a cross-sectional study
Lin Wang
Hui Zou
Ming Shen
Original Article Open access 10 November 2016 Pages: 369 - 376
Neurocognitive profiles in MSUD school-age patients
Juliette Bouchereau
Julie Leduc-Leballeur
Manuel Schiff
Original Article 21 March 2017 Pages: 377 - 383
Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay
Emma S. Reid
Hywel Williams
Peter T. Clayton
Original Article Open access 02 March 2017 Pages: 385 - 394
Characterization and outcome of 41 patients with beta-ketothiolase deficiency: 10 years’ experience of a medical center in northern Vietnam
Khanh Ngoc Nguyen
Elsayed Abdelkreem
Dung Chi Vu
Original Article 20 February 2017 Pages: 395 - 401
Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project
Amel Karaa
Shamima Rahman
on behalf of the Mito Working Group Member Participants:
Original Article 16 March 2017 Pages: 403 - 414
Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis
Stéphanie Paquay
Agnès Bourillon
Manuel Schiff
Original Article 02 March 2017 Pages: 415 - 422
Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences
Saskia B. Wortmann
Margaret A. Chen
and additional individual contributors
Original Article Open access 15 February 2017 Pages: 423 - 431
Disturbed iron metabolism in erythropoietic protoporphyria and association of GDF15 and gender with disease severity
Jasmin Barman-Aksoezen
Domenico Girelli
Gianfranco Biolcati
Original Article 09 February 2017 Pages: 433 - 441
Slow, continuous enzyme replacement via spinal CSF in dogs with the paediatric-onset neurodegenerative disease, MPS IIIA
Barbara King
Neil R. Marshall
Kim M. Hemsley
Original Article 10 November 2016 Pages: 443 - 453
Long term survival and cardiopulmonary outcome in children with Hurler syndrome after haematopoietic stem cell transplantation
Su Han Lum
Karolina M. Stepien
Robert Wynn
Original Article 10 March 2017 Pages: 455 - 460
Herpetiform keratitis and palmoplantar hyperkeratosis: warning signs for Richner-Hanhart syndrome
Diogo C. Soares
Mariana N. Stroparo
Chong A. Kim
Images in Metabolic Medicine 10 November 2016 Pages: 461 - 462
Erratum to: International Paediatric Mitochondrial Disease Scale
Saskia Koene
Erratum 13 February 2017 Pages: 463 - 463
Roscoe O. Brady, MD
Markus Ries
Obituary 07 April 2017 Pages: 465 - 465

Volume 40, Issue 3

News and views

Losartan improves aortic dilatation and cardiovascular disease in mucopolysaccharidosis I

NTCP deficiency and persistently raised bile salts: an adult case

Very long-chain acyl-CoA dehydrogenase (VLCAD-) deficiency–studies on treatment effects and long-term outcomes in mouse models

Sweet and sour: an update on classic galactosemia

Enzyme replacement therapy and beyond—in memoriam Roscoe O. Brady, M.D. (1923–2016)

Expanding the phenotype in argininosuccinic aciduria: need for new therapies

Household financial burden of phenylketonuria and its impact on treatment in China: a cross-sectional study

Neurocognitive profiles in MSUD school-age patients

Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay

Characterization and outcome of 41 patients with beta-ketothiolase deficiency: 10 years’ experience of a medical center in northern Vietnam

Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project

Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis

Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences

Disturbed iron metabolism in erythropoietic protoporphyria and association of GDF15 and gender with disease severity

Slow, continuous enzyme replacement via spinal CSF in dogs with the paediatric-onset neurodegenerative disease, MPS IIIA

Long term survival and cardiopulmonary outcome in children with Hurler syndrome after haematopoietic stem cell transplantation

Herpetiform keratitis and palmoplantar hyperkeratosis: warning signs for Richner-Hanhart syndrome

Erratum to: International Paediatric Mitochondrial Disease Scale

Roscoe O. Brady, MD

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