about
Morquio A syndrome-associated mutations: a review of alterations in the GALNS gene and a new locus-specific databaseRole of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosisThe enigmatic role of tafazzin in cardiolipin metabolismFatal malonyl CoA decarboxylase deficiency due to maternal uniparental isodisomy of the telomeric end of chromosome 16Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutationsAminoacylase I deficiency due to ACY1 mRNA exon skipping.Functional studies of new GLA gene mutations leading to conformational Fabry disease.Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatmentGM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.New clinical and molecular insights on Barth syndromeIntra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndromeGalactosialidosis: review and analysis of CTSA gene mutationsAngiokeratoma: decision-making aid for the diagnosis of Fabry disease.Primary and secondary elastin-binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patients.Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations.Clinical relevance of short-chain acyl-CoA dehydrogenase (SCAD) deficiency: Exploring the role of new variants including the first SCAD-disease-causing allele carrying a synonymous mutation.The impact of fever/hyperthermia in the diagnosis of Fabry: A retrospective analysis.De novo Diagnosis of Fabry Disease among Italian Adults with Acute Ischemic Stroke or Transient Ischemic Attack.Human Acid β-Glucosidase Inhibition by Carbohydrate Derived Iminosugars: Towards New Pharmacological Chaperones for Gaucher Disease.Biotinidase deficiency due to a de novo mutation or gonadal mosaicism in a first child.Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects.Sudden unexpected infant death (SUDI) in a newborn due to medium chain acyl CoA dehydrogenase (MCAD) deficiency with an unusual severe genotype.Double-target Antisense U1snRNAs Correct Mis-splicing Due to c.639+861C>T and c.639+919G>A GLA Deep Intronic Mutations.Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance.Newborn Screening for Tyrosinemia Type I: Further Evidence that Succinylacetone Determination on Blood Spot Is Essential.3-Hydroxy-3-methylglutaric aciduria in an Italian patient is caused by a new nonsense mutation in the HMGCL gene.Enzyme replacement therapy with agalsidase alfa in a cohort of Italian patients with Anderson-Fabry disease: testing the effects with the Mainz Severity Score Index.Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiency.Carbamoyl phosphate synthetase 1 deficiency in Italy: clinical and genetic findings in a heterogeneous cohort.Successful early management of a female patient with a metabolic stroke due to ornithine transcarbamylase deficiency.Hypocitrullinemia in expanded newborn screening by LC-MS/MS is not a reliable marker for ornithine transcarbamylase deficiency.Successful prenatal molecular diagnosis of carbamyl-phosphate synthetase I deficiency in two at-risk pregnancies.Different genotypes in a large Italian family with recurrent hereditary fructose intolerance.Genetic and biochemical approach to early prenatal diagnosis in a family with mut methylmalonic aciduria.When silence is noise: infantile-onset Barth syndrome caused by a synonymous substitution affecting TAZ gene transcription.Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature.(5aR)-5a-C-Pentyl-4-epi-isofagomine: A powerful inhibitor of lysosomal β-galactosidase and a remarkable chaperone for mutations associated with GM1-gangliosidosis and Morquio disease type B.The treatment of juvenile/adult GM1-gangliosidosis with Miglustat may reverse disease progression.Mutation identification of Fabry disease in families with other lysosomal storage disorders.Pitfalls in the detection of gross gene rearrangements using MLPA in Fabry disease.
P50
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P50
description
hulumtuese
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researcher
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wetenschapper
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հետազոտող
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name
Amelia Morrone
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Amelia Morrone
@en
Amelia Morrone
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Amelia Morrone
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type
label
Amelia Morrone
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Amelia Morrone
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Amelia Morrone
@es
Amelia Morrone
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prefLabel
Amelia Morrone
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Amelia Morrone
@en
Amelia Morrone
@es
Amelia Morrone
@nl
P106
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7004913090
P21
P31
P496
0000-0003-2890-8179