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Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy
British Library Online Contents | 2018| -
Globotriaosylsphingosine (Lyso-Gb3) as a biomarker for cardiac variant (N215S) Fabry disease
British Library Online Contents | 2018| -
Avascular necrosis after long-term glucocorticoid treatment in MELAS: a cautionary note
British Library Online Contents | 2018| -
A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturation
British Library Online Contents | 2018| -
Coagulopathy in Zellweger spectrum disorders: a role for vitamin K
British Library Online Contents | 2018| -
Daily variation of NTBC and its relation to succinylacetone in tyrosinemia type 1 patients comparing a single dose to two doses a day
British Library Online Contents | 2018| -
Priapism in a Fabry disease mouse model is associated with upregulated penile nNOS and eNOS expression
British Library Online Contents | 2018| -
An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants
British Library Online Contents | 2018| -
Skin lesions in a patient with Cobalamin C disease in poor metabolic control
British Library Online Contents | 2018| -
Neural cells generated from human induced pluripotent stem cells as a model of CNS involvement in mucopolysaccharidosis type II
British Library Online Contents | 2018| -
Risk factors for poor bone health in primary mitochondrial disease
British Library Online Contents | 2017| -
Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)
British Library Online Contents | 2017| -
Cysteamine revisited: repair of arginine to cysteine mutations
British Library Online Contents | 2017| -
Hyperinsulinemic hypoglycemia: clinical, molecular and therapeutical novelties
British Library Online Contents | 2017| -
Erratum to: International Paediatric Mitochondrial Disease Scale
British Library Online Contents | 2017| -
Newborn screening for mucopolysaccharidoses: a pilot study of measurement of glycosaminoglycans by tandem mass spectrometry
British Library Online Contents | 2017| -
Biochemical changes and clinical outcomes in 34 patients with classic galactosemia
British Library Online Contents | 2018| -
Propionyl-CoA carboxylase pcca-1 and pccb-1 gene deletions in Caenorhabditis elegans globally impair mitochondrial energy metabolism
British Library Online Contents | 2018|
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