| Title : Molecular and clinical characterization of a series of patients with childhood-onset lysosomal acid lipase deficiency. Retrospective investigations, follow-up and detection of two novel LIPA pathogenic variants - Pisciotta_2017_Atherosclerosis_265_124 |
| Author(s) : Pisciotta L , Tozzi G , Travaglini L , Taurisano R , Lucchi T , Indolfi G , Papadia F , Di Rocco M , D'Antiga L , Crock P , Vora K , Nightingale S , Michelakakis H , Garoufi A , Lykopoulou L , Bertolini S , Calandra S |
| Ref : Atherosclerosis , 265 :124 , 2017 |
| Abstract : |
| PubMedSearch : Pisciotta_2017_Atherosclerosis_265_124 |
| PubMedID: 28881270 |
| Gene_locus related to this paper: human-LIPA |
| Title : Galactosialidosis: review and analysis of CTSA gene mutations - Caciotti_2013_Orphanet.J.Rare.Dis_8_114 |
| Author(s) : Caciotti A , Catarzi S , Tonin R , Lugli L , Perez CR , Michelakakis H , Mavridou I , Donati MA , Guerrini R , d'Azzo A , Morrone A |
| Ref : Orphanet J Rare Dis , 8 :114 , 2013 |
| Abstract : |
| PubMedSearch : Caciotti_2013_Orphanet.J.Rare.Dis_8_114 |
| PubMedID: 23915561 |
| Gene_locus related to this paper: human-CTSA |
| Title : Erythrocyte membrane acetylcholinesterase, Na+, K+-ATPase and Mg2+-ATPase activities in patients with classical galactosaemia - Tsakiris_2005_Acta.Paediatr_94_1223 |
| Author(s) : Tsakiris S , Michelakakis H , Schulpis KH |
| Ref : Acta Paediatr , 94 :1223 , 2005 |
| Abstract : |
| PubMedSearch : Tsakiris_2005_Acta.Paediatr_94_1223 |
| PubMedID: 16278988 |
| Title : Acetylcholinesterase activity and biogenic amines in phenylketonuria - |
| Author(s) : Schulpis KH , Karikas GA , Tjamouranis J , Michelakakis H , Tsakiris S |
| Ref : Clinical Chemistry , 48 :1794 , 2002 |
| PubMedID: 12324501 |
| Title : Reduced acetylcholinesterase activity in erythrocyte membranes from patients with phenylketonuria - Tsakiris_2002_Clin.Biochem_35_615 |
| Author(s) : Tsakiris S , Schulpis KH , Tjamouranis J , Michelakakis H , Karikas GA |
| Ref : Clinical Biochemistry , 35 :615 , 2002 |
| Abstract : |
| PubMedSearch : Tsakiris_2002_Clin.Biochem_35_615 |
| PubMedID: 12498995 |