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

  • 2018-11-28 Synaptic metabolism and brain circuitries in inborn errors of metabolism
  • 2018-09-27 Response letter
  • 2018-09-25 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.
  • 2018-09-24 View from inside
  • 2018-09-07 The diagnostic challenge in very-long chain acyl-CoA dehydrogenase deficiency (VLCADD)
  • 2018-09-03 Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry
  • 2018-09 Editorial
  • 2018-08-29 Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population
  • 2018-08-28 Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study
  • 2018-08-22 Clinical effectiveness of enzyme replacement therapy with galsulfase in mucopolysaccharidosis type VI treatment: systematic review
  • 2018-08-21 Disulfiram enhanced delivery of orally administered copper into the central nervous system in Menkes disease mouse model
  • 2018-08-21 Allogeneic haematopoietic stem cell transplantation with myeloablative conditioning for adult cerebral X-linked adrenoleukodystrophy
  • 2018-08-20 Oral Presentations
  • 2018-08-20 Index of Authors
  • 2018-07-24 Long-term complications of glycogen storage disease type Ia in the canine model treated with gene replacement therapy
  • 2018-07-24 The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: a common epileptic encephalopathy
  • 2018-07-18 Presynaptic disorders: a clinical and pathophysiological approach focused on the synaptic vesicle
  • 2018-07-16 Synaptic metabolism: a new approach to inborn errors of neurotransmission
  • 2018-07-09 Results from a 78-week, single-arm, open-label Phase 2 study to evaluate UX007 in pediatric and adult patients with severe long-chain fatty acid oxidation disorders (LC-FAOD)
  • 2018-07-06 Induced pluripotent stem cells (iPSCs) as model to study inherited defects of neurotransmission in inborn errors of metabolism
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