Showing results (321-330 of 4,750) with videos related to
Sort By:
Pageof 475
Orphanet Journal of Rare Diseases|July 22, 2018
Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiencyAmelie S Lotz-Havla, Wulf Röschinger, Katharina Schiergens, et al.Orphanet Journal of Rare Diseases|July 22, 2018
The burden of congenital hyperinsulinism in the United Kingdom: a cost of illness studySana Eljamel, Annabel Griffiths, Jenni Evans, et al.Orphanet Journal of Rare Diseases|July 13, 2018
Alpha-1 antitrypsin deficiency: outstanding questions and future directionsMaría Torres-Durán, José Luis Lopez-Campos, Miriam Barrecheguren, et al.Orphanet Journal of Rare Diseases|July 13, 2018
Transcriptome level analysis in Rett syndrome using human samples from different tissuesStephen Shovlin, Daniela TropeaOrphanet Journal of Rare Diseases|July 15, 2018
Emotional processes and stress in children affected by hereditary angioedema with C1-inhibitor deficiency: a multicenter, prospective studyLivia Savarese, Maria Bova, Raffaella De Falco, et al.Orphanet Journal of Rare Diseases|July 11, 2018
Challenges of palliative care in children with inborn metabolic diseasesJessica I Hoell, Jens Warfsmann, Felix Distelmaier, et al.Orphanet Journal of Rare Diseases|June 22, 2018
Target achievement and cardiovascular event rates with Lomitapide in homozygous Familial HypercholesterolaemiaDirk J Blom, Marina Cuchel, Miranda Ager, et al.Orphanet Journal of Rare Diseases|June 28, 2018
Longitudinal hearing loss in Wolfram syndromeRoanne Karzon, Anagha Narayanan, Ling Chen, et al.Orphanet Journal of Rare Diseases|June 28, 2018
Carbohydrate status in patients with phenylketonuriaMaría L Couce, Paula Sánchez-Pintos, Isidro Vitoria, et al.Pageof 475