Journal of Inherited Metabolic Disease View Homepage


Ontology type: schema:Periodical     


Journal Info

START YEAR

1978

PUBLISHER

Springer Netherlands

LANGUAGE

en

HOMEPAGE

http://link.springer.com/journal/10545

Recent publications latest 20 shown

  • 2018-11 Long-term complications of glycogen storage disease type Ia in the canine model treated with gene replacement therapy
  • 2018-11 Letter to the Editors: Concerning “Long-term safety and efficacy of AAV gene therapy in the canine model of glycogen storage disease type Ia” by Lee et al.
  • 2018-11 Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease
  • 2018-11 Synaptic metabolism: a new approach to inborn errors of neurotransmission
  • 2018-11 Role of continuous glucose monitoring in the management of glycogen storage disorders
  • 2018-11 Correction to: Medical and financial burden of acute intermittent porphyria
  • 2018-11 Craniosynostosis affects the majority of mucopolysaccharidosis patients and can contribute to increased intracranial pressure
  • 2018-11 Insulin-resistance in glycogen storage disease type Ia: linking carbohydrates and mitochondria?
  • 2018-11 Cellular neurometabolism: a tentative to connect cell biology and metabolism in neurology
  • 2018-11 Fibroblast growth factor 21 as a biomarker for long-term complications in organic acidemias
  • 2018-11 The efficacy of intracerebroventricular idursulfase-beta enzyme replacement therapy in mucopolysaccharidosis II murine model: heparan sulfate in cerebrospinal fluid as a clinical biomarker of neuropathology
  • 2018-11 Non-osteogenic muscle hypertrophy in children with McArdle disease
  • 2018-11 Polycystic kidney features of the renal pathology in glycogen storage disease type I: possible evolution to renal neoplasia
  • 2018-11 Efficacy and safety of Velmanase alfa in the treatment of patients with alpha-mannosidosis: results from the core and extension phase analysis of a phase III multicentre, double-blind, randomised, placebo-controlled trial
  • 2018-11 Severe ichthyosis in MPDU1-CDG
  • 2018-11 Improvement in bone marrow infiltration in patients with type I Gaucher disease treated with taliglucerase alfa
  • 2018-11 Molecular biology and gene therapy for glycogen storage disease type Ib
  • 2018-11 Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosis
  • 2018-11 Metabolism of amino acid neurotransmitters: the synaptic disorder underlying inherited metabolic diseases
  • 2018-11 A preliminary study of telemedicine for patients with hepatic glycogen storage disease and their healthcare providers: from bedside to home site monitoring
  • JSON-LD is the canonical representation for SciGraph data.

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