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TIB reading rooms collection
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Transplantation in inborn errors of metabolism: current considerations and future perspectives
Wiley | 2014|Keywords: inborn errors -
Advances in purine and pyrimidine metabolism in health and diseases
Taylor & Francis Verlag | 2016|Keywords: inborn errors -
Life‐threatening infectious diseases of childhood: single‐gene inborn errors of immunity?
Wiley | 2010|Keywords: inborn errors -
The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies
Free accessOnline Contents | 2017|Keywords: Inborn errors of immunity -
Synaptic metabolism: a new approach to inborn errors of neurotransmission
Online Contents | 2018|Keywords: Inborn errors of metabolism, Inborn errors of neurotransmitters -
Inborn errors of metabolism underlying primary immunodeficiencies
Online Contents | 2014|Keywords: inborn errors of metabolism -
The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee
Free accessOnline Contents | 2021|Keywords: Inborn errors of immunity -
Cystathionine β‐synthase‐deficient mice thrive on a low‐methionine diet
Wiley | 2014|Keywords: inborn errors -
Chemical individuality in T cells: A Garrodian view of immunometabolism
Wiley | 2020|Keywords: inborn errors of metabolism -
Treatment of lysosomal storage disorders: successes and challenges
British Library Conference Proceedings | 2014|Keywords: Inborn errors -
Treating inborn errors of liver metabolism with stem cells: current clinical development
British Library Conference Proceedings | 2014|Keywords: Inborn errors -
Innovative strategies to treat protein misfolding in inborn errors of metabolism: pharmacological chaperones and proteostasis regulators
British Library Conference Proceedings | 2014|Keywords: Inborn errors -
Experimental evidence for protein oxidative damage and altered antioxidant defense in patients with medium-chain acyl-CoA dehydrogenase deficiency
British Library Conference Proceedings | 2014|Keywords: Inborn errors -
Clinical presentation and outcome in a series of 88 patients with the cblC defect
British Library Conference Proceedings | 2014|Keywords: Inborn errors -
Metabolic emergencies and the emergency physician
Wiley | 2016|Keywords: inborn errors of metabolism -
Ketone body metabolism and its defects
British Library Conference Proceedings | 2014|Keywords: Inborn errors -
Genistein increases glycosaminoglycan levels in mucopolysaccharidosis type I cell models
British Library Conference Proceedings | 2014|Keywords: Inborn errors -
Defects of thiamine transport and metabolism
British Library Conference Proceedings | 2014|Keywords: Inborn errors -
What is new for monoamine neurotransmitter disorders?
British Library Conference Proceedings | 2014|Keywords: Inborn errors -
Congenital disorders of glycosylation: new defects and still counting
British Library Conference Proceedings | 2014|Keywords: Inborn errors