Manuel Pajares-Parron

La Paz, MD, Spain

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 25 publications

Pulmonary Alveolar Proteinosis Secondary to ADA-SCID Successfully Treated With Gene Therapy: A Case Report.

Pulmonary Alveolar Proteinosis Secondary to ADA-SCID Successfully Treated With Gene Therapy: A Case Report.

Journal: Pediatric pulmonology

Published: January 19, 2026

Effect of Muscle Mass on Catch-Up Growth After Liver Transplant in Infants With Biliary Atresia.

Effect of Muscle Mass on Catch-Up Growth After Liver Transplant in Infants With Biliary Atresia.

Journal: Pediatric transplantation

Published: July 15, 2025

Novel MBTPS1 Variants and Cutis Laxa Phenotype in the 8th Reported Case of Spondyloepiphyseal Dysplasia, Kondo-Fu Type.

Novel MBTPS1 Variants and Cutis Laxa Phenotype in the 8th Reported Case of Spondyloepiphyseal Dysplasia, Kondo-Fu Type.

Journal: Clinical genetics

Published: July 11, 2025

Moderate to Severe Short Stature and Joint Involvement in Individuals With ACAN Deletions.

Moderate to Severe Short Stature and Joint Involvement in Individuals With ACAN Deletions.

Journal: Clinical endocrinology

Published: January 09, 2025

The use of imaging tests in paediatric button battery ingestion complications.

The use of imaging tests in paediatric button battery ingestion complications.

Journal: Radiologia

Published: April 14, 2024

Congenital metastatic neuroblastoma with placental involvement as a rare cause of non-immune fetal hydrops.

Congenital metastatic neuroblastoma with placental involvement as a rare cause of non-immune fetal hydrops.

Journal: The journal of obstetrics and gynaecology research

Published: November 20, 2023

Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13-related: Description of 11 further cases.

Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13-related: Description of 11 further cases.

Journal: Clinical genetics

Published: March 08, 2023

Impact of muscle mass on the prognosis of liver transplantation for infants with biliary atresia.

Impact of muscle mass on the prognosis of liver transplantation for infants with biliary atresia.

Journal: Frontiers in pediatrics

Published: November 09, 2022

Case report: A third variant in the 5' UTR of TWIST1 creates a novel upstream translation initiation site in a child with Saethre-Chotzen syndrome.

Case report: A third variant in the 5' UTR of TWIST1 creates a novel upstream translation initiation site in a child with Saethre-Chotzen syndrome.

Journal: Frontiers in genetics

Published: November 04, 2022

Broadening the phenotypic spectrum of EVEN-PLUS syndrome through identification of HSPA9 pathogenic variants in the original EVE dysplasia family and two sibs with milder facial phenotype.

Broadening the phenotypic spectrum of EVEN-PLUS syndrome through identification of HSPA9 pathogenic variants in the original EVE dysplasia family and two sibs with milder facial phenotype.

Journal: American journal of medical genetics. Part A

Published: October 05, 2021

Severe Thrombocytopenia as the Main Manifestation of Childhood-Onset Systemic Lupus Erythematosus.

Severe Thrombocytopenia as the Main Manifestation of Childhood-Onset Systemic Lupus Erythematosus.

Journal: Mediterranean journal of rheumatology

Published: August 11, 2021

High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies.

High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies.

Journal: European journal of endocrinology

Published: May 26, 2021

Showing 1-12 of 25

Last Updated: 09/26/2026