Lorenzo Ferri

Employment

Employment history is unavailable.

Education

• Università di Roma Tor Vertgata Specialization in Clinical Biochemistry
  2010 - 2015
• Università degli Studi di Firenze phD Genetics
  ? - 2009
• Università degli Studi di Firenze Biology
  ? - 2005

Projects & Funding

Projects & funding information is unavailable.

Publications (33)

• Over Ten Years of Newborn Screening for LSDs in Tuscany (Italy): Epidemiology, Novel Variants, and the Pseudodeficiency Burden
  Ssrn 2026 DOI: 10.2139/ssrn.6295020
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• Over ten years of newborn screening for LSDs in Tuscany (Italy): Epidemiology, novel variants, and the pseudodeficiency burden
  Molecular Genetics and Metabolism 2026 DOI: 10.1016/j.ymgme.2026.110114
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• High Prevalence of GALC Gene Variants in Adults With Neurodegenerative Conditions
  European Journal of Neurology 2025 DOI: 10.1111/ene.70206
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• Phosphomannomutase 2-congenital disorder of glycosylation: exploring the role of N-glycosylation on the endocrine axes
  Frontiers in Endocrinology 2025 DOI: 10.3389/fendo.2025.1594118
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• Impaired myoblast differentiation and muscle IGF‐1 receptor signaling pathway activation after N‐glycosylation inhibition
  The FASEB Journal 2024 DOI: 10.1096/fj.202400213RR
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• Higher frequency of TMEM199-CDG in the southern mediterranean area is associated with c.92G>C (p.Arg31Pro) mutation
  European Journal of Medical Genetics 2023 DOI: 10.1016/j.ejmg.2023.104709
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• Defective IGF-1 prohormone N-glycosylation and reduced IGF-1 receptor signaling activation in congenital disorders of glycosylation
  Cellular and Molecular Life Sciences 2022 DOI: 10.1007/s00018-022-04180-x
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• PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations.
  Clinical epigenetics 2021 DOI: 10.1186/s13148-021-01117-2
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• Multicenter evaluation of use of dried blood spot compared to conventional plasma in measurements of globotriaosylsphingosine (LysoGb3) concentration in 104 Fabry patients.
  Clinical chemistry and laboratory medicine 2021 DOI: 10.1515/cclm-2021-0316
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• Disorder of sex development associated with a novel homozygous nonsense mutation in COG6 expands the phenotypic spectrum of COG6-CDG.
  Licia Lugli, Maria Carolina Bariola, Lorenzo Ferri +7 more
  American journal of medical genetics. Part A 2021 DOI: 10.1002/ajmg.a.62061
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• SARS-CoV-2 infection in a patient with propionic acidemia.
  Orphanet journal of rare diseases 2020 DOI: 10.1186/s13023-020-01563-w
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• Functional and pharmacological evaluation of novel GLA variants in Fabry disease identifies six (two de novo) causative mutations and two amenable variants to the chaperone DGJ.
  Clinica chimica acta; international journal of clinical chemistry 2018 DOI: 10.1016/j.cca.2018.02.021
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• Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature.
  International journal of molecular sciences 2018 DOI: 10.3390/ijms19020345
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• Double-target Antisense U1snRNAs Correct Mis-splicing Due to c.639+861C>T and c.639+919G>A GLA Deep Intronic Mutations.
  Molecular therapy. Nucleic acids 2016 DOI: 10.1038/mtna.2016.88
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• Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy.
  Developmental medicine and child neurology 2016 DOI: 10.1111/dmcn.13141
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• The impact of fever/hyperthermia in the diagnosis of Fabry: A retrospective analysis.
  2016 DOI: 10.1016/j.ejim.2016.03.015
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• When silence is noise: infantile-onset Barth syndrome caused by a synonymous substitution affecting TAZ gene transcription.
  2016 DOI: 10.1111/cge.12756
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• Pitfalls in the detection of gross gene rearrangements using MLPA in Fabry disease.
  2016 DOI: 10.1016/j.cca.2015.10.027
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• Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome.
  2015 DOI: 10.1038/ejhg.2015.50
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• De novo Diagnosis of Fabry Disease among Italian Adults with Acute Ischemic Stroke or Transient Ischemic Attack.
  2015 DOI: 10.1016/j.jstrokecerebrovasdis.2015.07.012
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