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Amelia Morrone

Showing results (51-60 of 116) with videos related to

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Clinica Chimica Acta; International Journal of Clinical Chemistry|March 22, 2015
Biotinidase deficiency due to a de novo mutation or gonadal mosaicism in a first childRodolfo Tonin, Anna Caciotti, Silvia Funghini, et al.
American Journal of Medical Genetics. Part A|January 4, 2021
Disorder of sex development associated with a novel homozygous nonsense mutation in COG6 expands the phenotypic spectrum of COG6-CDGLicia Lugli, Maria Carolina Bariola, Lorenzo Ferri, et al.
JIMD Reports|February 23, 2013
Newborn Screening for Tyrosinemia Type I: Further Evidence that Succinylacetone Determination on Blood Spot Is EssentialGiancarlo la Marca, Sabrina Malvagia, Elisabetta Pasquini, et al.
European Journal of Heart Failure|July 3, 2013
Coronary microvascular dysfunction is an early feature of cardiac involvement in patients with Anderson-Fabry diseaseBenedetta Tomberli, Franco Cecchi, Roberto Sciagrà, et al.
Chemistry (Weinheim an Der Bergstrasse, Germany)|January 4, 2023
Light-Triggered Control of Glucocerebrosidase Inhibitors: Towards Photoswitchable Pharmacological ChaperonesFrancesca Clemente, Maria Giulia Davighi, Camilla Matassini, et al.
Molecules (Basel, Switzerland)|January 23, 2024
Identification of GM1-Ganglioside Secondary Accumulation in Fibroblasts from Neuropathic Gaucher Patients and Effect of a Trivalent Trihydroxypiperidine Iminosugar Compound on Its Storage ReductionCostanza Ceni, Francesca Clemente, Francesca Mangiavacchi, et al.
Stem Cell Research|June 10, 2025
Generation of a cellular model for mucopolysaccharidosis type IVA (MPS IVA) (AOUMEYi003-A) from a patient carrying compound heterozygous mutations p.G116V and p.G290S in the GALNS geneFederica Feo, Silvia Falliano, Anna Caciotti, et al.
Chemistry & Biodiversity|June 7, 2024
Iminosugar-Dihydroazulenes as Mutant L444P Glucocerebrosidase EnhancersMaria Giulia Davighi, Francesca Clemente, Emilie Sperling Andreasen, et al.
Aging Cell|April 22, 2006
Senescence-associated beta-galactosidase is lysosomal beta-galactosidaseBo Yun Lee, Jung A Han, Jun Sub Im, et al.
Chemistry (Weinheim an Der Bergstrasse, Germany)|December 8, 2025
Simultaneous Grafting of 3,4,5-Trihydroxypiperidine Iminosugars Onto Multivalent Scaffolds via Double Reductive Amination Provides New GCase InhibitorsMaria Giulia Davighi, Francesca Clemente, Alessio Morano, et al.
Pageof 12

Showing results (51-60 of 116) with videos related to

Sort By:
Pageof 12
Clinica Chimica Acta; International Journal of Clinical Chemistry|March 22, 2015
Biotinidase deficiency due to a de novo mutation or gonadal mosaicism in a first childRodolfo Tonin, Anna Caciotti, Silvia Funghini, et al.
American Journal of Medical Genetics. Part A|January 4, 2021
Disorder of sex development associated with a novel homozygous nonsense mutation in COG6 expands the phenotypic spectrum of COG6-CDGLicia Lugli, Maria Carolina Bariola, Lorenzo Ferri, et al.
JIMD Reports|February 23, 2013
Newborn Screening for Tyrosinemia Type I: Further Evidence that Succinylacetone Determination on Blood Spot Is EssentialGiancarlo la Marca, Sabrina Malvagia, Elisabetta Pasquini, et al.
European Journal of Heart Failure|July 3, 2013
Coronary microvascular dysfunction is an early feature of cardiac involvement in patients with Anderson-Fabry diseaseBenedetta Tomberli, Franco Cecchi, Roberto Sciagrà, et al.
Chemistry (Weinheim an Der Bergstrasse, Germany)|January 4, 2023
Light-Triggered Control of Glucocerebrosidase Inhibitors: Towards Photoswitchable Pharmacological ChaperonesFrancesca Clemente, Maria Giulia Davighi, Camilla Matassini, et al.
Molecules (Basel, Switzerland)|January 23, 2024
Identification of GM1-Ganglioside Secondary Accumulation in Fibroblasts from Neuropathic Gaucher Patients and Effect of a Trivalent Trihydroxypiperidine Iminosugar Compound on Its Storage ReductionCostanza Ceni, Francesca Clemente, Francesca Mangiavacchi, et al.
Stem Cell Research|June 10, 2025
Generation of a cellular model for mucopolysaccharidosis type IVA (MPS IVA) (AOUMEYi003-A) from a patient carrying compound heterozygous mutations p.G116V and p.G290S in the GALNS geneFederica Feo, Silvia Falliano, Anna Caciotti, et al.
Chemistry & Biodiversity|June 7, 2024
Iminosugar-Dihydroazulenes as Mutant L444P Glucocerebrosidase EnhancersMaria Giulia Davighi, Francesca Clemente, Emilie Sperling Andreasen, et al.
Aging Cell|April 22, 2006
Senescence-associated beta-galactosidase is lysosomal beta-galactosidaseBo Yun Lee, Jung A Han, Jun Sub Im, et al.
Chemistry (Weinheim an Der Bergstrasse, Germany)|December 8, 2025
Simultaneous Grafting of 3,4,5-Trihydroxypiperidine Iminosugars Onto Multivalent Scaffolds via Double Reductive Amination Provides New GCase InhibitorsMaria Giulia Davighi, Francesca Clemente, Alessio Morano, et al.
Pageof 12