Eliza M. Kuczynska

Rome, 00168, Italy

Last Updated: 09/26/2026

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Found 20 publications

Muscle ultrasonography in costello syndrome: unveiling new clinical insights of a complex muscular phenotype.

Muscle ultrasonography in costello syndrome: unveiling new clinical insights of a complex muscular phenotype.

Journal: Orphanet journal of rare diseases

Published: November 21, 2025

Feeding and Nutritional Key Features of Crisponi/Cold-Induced Sweating Syndrome.

Feeding and Nutritional Key Features of Crisponi/Cold-Induced Sweating Syndrome.

Journal: Genes

Published: July 01, 2024

Prognostic factors for tube feeding in type I SMA patients treated with disease-modifying therapies: a cohort study.

Prognostic factors for tube feeding in type I SMA patients treated with disease-modifying therapies: a cohort study.

Journal: European journal of pediatrics

Published: May 29, 2024

Clarifying main nutritional aspects and resting energy expenditure in children with Smith-Magenis syndrome.

Clarifying main nutritional aspects and resting energy expenditure in children with Smith-Magenis syndrome.

Journal: European journal of pediatrics

Published: March 04, 2024

From Feeding Challenges to Oral-Motor Dyspraxia: A Comprehensive Description of 10 New Cases with CTNNB1 Syndrome.

From Feeding Challenges to Oral-Motor Dyspraxia: A Comprehensive Description of 10 New Cases with CTNNB1 Syndrome.

Journal: Genes

Published: August 19, 2023

Ligamentous laxity in children with achondroplasia: Prevalence, joint involvement, and implications for early intervention strategies.

Ligamentous laxity in children with achondroplasia: Prevalence, joint involvement, and implications for early intervention strategies.

Journal: European journal of medical genetics

Published: August 07, 2023

Metabolic Profile of Patients with Smith-Magenis Syndrome: An Observational Study with Literature Review.

Metabolic Profile of Patients with Smith-Magenis Syndrome: An Observational Study with Literature Review.

Journal: Children (Basel, Switzerland)

Published: July 10, 2023

How pain affect real life of children and adults with achondroplasia: A systematic review.

How pain affect real life of children and adults with achondroplasia: A systematic review.

Journal: European journal of medical genetics

Published: June 16, 2023

Validation and cross-cultural adaptation of the Italian version of the paediatric eating assessment tool (I-PEDI-EAT-10) in genetic syndromes.

Validation and cross-cultural adaptation of the Italian version of the paediatric eating assessment tool (I-PEDI-EAT-10) in genetic syndromes.

Journal: International journal of language & communication disorders

Published: June 14, 2023

The "FEEDS (FEeding Eating Deglutition Skills)" over Time Study in Cardiofaciocutaneous Syndrome.

The "FEEDS (FEeding Eating Deglutition Skills)" over Time Study in Cardiofaciocutaneous Syndrome.

Journal: Genes

Published: May 19, 2023

What to Expect of Feeding Abilities and Nutritional Aspects in Achondroplasia Patients: A Narrative Review.

What to Expect of Feeding Abilities and Nutritional Aspects in Achondroplasia Patients: A Narrative Review.

Journal: Genes

Published: December 10, 2022

Cross-cultural adaptation and validation of the Italian version of the Montreal Children's Hospital Feeding Scale in a special healthcare needs population.

Cross-cultural adaptation and validation of the Italian version of the Montreal Children's Hospital Feeding Scale in a special healthcare needs population.

Journal: International journal of language & communication disorders

Published: September 30, 2022

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Last Updated: 09/26/2026