Inherited Metabolic Disorders in Adults

Virtual Issues
26 April 2021
28 April 2021

The editors of Journal of Inherited Metabolic Disease and Journal of Internal Medicine, Profs Eva Morava and Ulf de Faire have collaborated to produce a joint virtual issue comprising papers from each journal on the theme of Inherited Metabolic Disorders in Adults.

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Review Article

Open Access

Mucus and mucins in diseases of the intestinal and respiratory tracts

G. C. Hansson, 

Content List - 15th Key symposium - “Innate immunity”.

Free Access

Genetic testing and surveillance guidelines in hereditary pheochromocytoma and paraganglioma

A. Muth,  J. Crona,  O. Gimm,  A. Elmgren,  K. Filipsson,  M. Stenmark Askmalm,  J. Sandstedt,  M. Tengvar,  E. Tham, 
Free Access

Familial chylomicronemia syndrome: an under-recognized cause of severe hypertriglyceridaemia

A. Baass,  M. Paquette,  S. Bernard,  R.A. Hegele, 
Familial chylomicronemia syndrome: an under-recognized cause of severe hypertriglyceridaemia

Free Access

Environmental factors in the pathogenesis of primary Sjögren's syndrome

A. Björk,  J. Mofors,  M. Wahren-Herlenius, 
Environmental factors in the pathogenesis of primary Sjögren's syndrome

Open Access

Inheritance of mitochondrial DNA in humans: implications for rare and common diseases

W. Wei,  P. F. Chinnery, 
Inheritance of mitochondrial DNA in humans: implications for rare and common diseases

Content List - Read more articles from the symposium: “Mitochondria in human disease”.

Synaptic energy metabolism and neuronal excitability, in sickness and health

Alfonso Oyarzabal,  Isaac Marin-Valencia, 

Treating lysosomal storage disorders: What have we learnt?

Robin H. Lachmann, 

Challenges in diagnosing and managing adult patients with urea cycle disorders

Karolina M. Stepien,  Tarekegn Geberhiwot,  Christian J. Hendriksz,  Eileen P. Treacy, 

Original Article

Free Access

Systemic features of retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations: a monogenic small vessel disease

N. Pelzer,  E. S. Hoogeveen,  J. Haan,  R. Bunnik,  C. C. Poot,  E. W. van Zwet,  A. Inderson,  A. J. Fogteloo,  M. E. J. Reinders,  H. A. M. Middelkoop,  M. C. Kruit,  A. M. J. M. van den Maagdenberg,  M. D. Ferrari,  G. M. Terwindt, 
Open Access

Broader phenotypic traits and widespread brain hypometabolism in spinocerebellar ataxia 27

M. Paucar,  J. Lundin,  T. Alshammari,  Å. Bergendal,  M. Lindefeldt,  M. Alshammari,  G. Solders,  J. Di Re,  I. Savitcheva,  T. Granberg,  F. Laezza,  E. Iwarsson,  P. Svenningsson, 
Broader phenotypic traits and widespread brain hypometabolism in spinocerebellar ataxia 27

Open Access

Stratification of Fabry mutations in clinical practice: a closer look at α-galactosidase A-3D structure

V. Rickert,  L. Wagenhäuser,  P. Nordbeck,  C. Wanner,  C. Sommer,  S. Rost,  N. Üçeyler, 
Stratification of Fabry mutations in clinical practice: a closer look at α-galactosidase A-3D structure

Quantitative natural history characterization in a cohort of 142 published cases of patients with galactosialidosis—A cross-sectional study

Tomáš Sláma,  Sven F. Garbade,  Stefan Kölker,  Georg F. Hoffmann,  Markus Ries, 

Allogeneic hematopoietic stem cell transplantation with myeloablative conditioning for adult cerebral X-linked adrenoleukodystrophy

Nils Waldhüter,  Wolfgang Köhler,  Philipp G. Hemmati,  Christian Jehn,  Rudolf Peceny,  Giang L. Vuong,  Renate Arnold,  Jörn-Sven Kühl, 

Cerebrospinal fluid biogenic amines depletion and brain atrophy in adult patients with phenylketonuria

Andrea Pilotto,  Nenad Blau,  Edytha Leks,  Claudia Schulte,  Christian Deuschl,  Carl Zipser,  David Piel,  Peter Freisinger,  Gwendolyn Gramer,  Stefan Kölker,  Dorothea Haas,  Peter Burgard,  Peter Nawroth,  Hoffmann Georg,  Klaus Scheffler,  Daniela Berg,  Friedrich Trefz,