Sophie S. Guez

Milan, Italy

Last Updated: 09/26/2026

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Found 33 publications

Correction to: Quality of life in children and adults with epidermolysis bullosa: the QoL-REB explorative study.

Correction to: Quality of life in children and adults with epidermolysis bullosa: the QoL-REB explorative study.

Journal: Orphanet journal of rare diseases
Published: August 07, 2026

Topical gene therapy for severe recessive dystrophic epidermolysis bullosa: clinical outcomes and multidisciplinary management in three patients treated with beremagene geperpavec (B-VEC) in Italy - a case series.

Topical gene therapy for severe recessive dystrophic epidermolysis bullosa: clinical outcomes and multidisciplinary management in three patients treated with beremagene geperpavec (B-VEC) in Italy - a case series.

Journal: Drugs in context
Published: February 17, 2026

Quality of life in children and adults with epidermolysis bullosa: the QoL-REB explorative study.

Quality of life in children and adults with epidermolysis bullosa: the QoL-REB explorative study.

Journal: Orphanet journal of rare diseases
Published: October 16, 2025

Quality of life in children and adults with epidermolysis bullosa: the QoL-REB explorative study.

Quality of life in children and adults with epidermolysis bullosa: the QoL-REB explorative study.

Journal: Orphanet journal of rare diseases
Published: October 16, 2025

Deodorant Spray-Induced Cold Burns: A Case of Child Abuse.

Deodorant Spray-Induced Cold Burns: A Case of Child Abuse.

Journal: Pediatric dermatology
Published: August 08, 2024

Childhood-onset focal epilepsy and acute para-infectious encephalopathy in a patient with biallelic QARS1 variants.

Childhood-onset focal epilepsy and acute para-infectious encephalopathy in a patient with biallelic QARS1 variants.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: July 15, 2024

Let Time Teach You: A Case Report of a Double Diagnosis of 17P Duplication and Ehlers-Danlos Syndrome.

Let Time Teach You: A Case Report of a Double Diagnosis of 17P Duplication and Ehlers-Danlos Syndrome.

Journal: Genes
Published: October 04, 2022

Correction to: Juvenile idiopathic arthritis in Harlequin ichthyosis, a rare combination or the clinical spectrum of the disease? Report of a child treated with etanercept and review of the literature.

Correction to: Juvenile idiopathic arthritis in Harlequin ichthyosis, a rare combination or the clinical spectrum of the disease? Report of a child treated with etanercept and review of the literature.

Journal: Pediatric rheumatology online journal
Published: July 24, 2021

A single-centre study on predictors and determinants of pubertal delay and growth impairment in Epidermolysis Bullosa.

A single-centre study on predictors and determinants of pubertal delay and growth impairment in Epidermolysis Bullosa.

Journal: PloS one
Published: June 30, 2021

Proposal for a 6-step approach for differential diagnosis of neonatal erythroderma.

Proposal for a 6-step approach for differential diagnosis of neonatal erythroderma.

Journal: Journal of the European Academy of Dermatology and Venereology : JEADV
Published: May 12, 2021

Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients.

Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients.

Journal: Genes
Published: December 23, 2020

Family burden of children suffering from epidermolysis bullosa.

Family burden of children suffering from epidermolysis bullosa.

Journal: Italian journal of dermatology and venereology
Published: October 09, 2020
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Last Updated: 09/26/2026