Montserrat Morales-Conejo

Madrid, MD 28029, Spain

Last Updated: 09/26/2026

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Found 46 publications

Immuno-Inflammatory Profiling and Complement Activation in Fabry Disease: A Cross-Sectional Study.

Immuno-Inflammatory Profiling and Complement Activation in Fabry Disease: A Cross-Sectional Study.

Journal: International journal of molecular sciences

Published: June 19, 2026

New cases of δ-aminolevulinic acid dehydratase deficiency: Functional insights into gene variants using an innovative mouse liver model.

New cases of δ-aminolevulinic acid dehydratase deficiency: Functional insights into gene variants using an innovative mouse liver model.

Journal: Journal of internal medicine

Published: November 21, 2025

Executive summary of the consensus document on management of the transition of patients with inborn errors of intermediary metabolism.

Executive summary of the consensus document on management of the transition of patients with inborn errors of intermediary metabolism.

Journal: Revista clinica espanola

Published: November 19, 2025

Sleep in MELAS syndrome.

Sleep in MELAS syndrome.

Journal: Sleep & breathing = Schlaf & Atmung

Published: September 07, 2025

Alternative splicing events of three rare variants in CHKB gene causing megaconial congenital dystrophy.

Alternative splicing events of three rare variants in CHKB gene causing megaconial congenital dystrophy.

Journal: Neurogenetics

Published: April 02, 2025

Clinical characteristics and management of Spanish adult patients with phenylketonuria.

Clinical characteristics and management of Spanish adult patients with phenylketonuria.

Journal: Revista clinica espanola

Published: March 17, 2025

Understanding the Natural History and the Effects of Current Therapeutic Strategies on Urea Cycle Disorders: Insights from the UCD Spanish Registry.

Understanding the Natural History and the Effects of Current Therapeutic Strategies on Urea Cycle Disorders: Insights from the UCD Spanish Registry.

Journal: Nutrients

Published: March 06, 2025

Childhood to adult transition in youth patients with lysosomal acid lipase deficiency: 43 recommendations from experts.

Childhood to adult transition in youth patients with lysosomal acid lipase deficiency: 43 recommendations from experts.

Journal: Orphanet journal of rare diseases

Published: October 17, 2024

PICO questions and DELPHI methodology for improving the management of patients with acute hepatic porphyria.

PICO questions and DELPHI methodology for improving the management of patients with acute hepatic porphyria.

Journal: Revista clinica espanola

Published: March 21, 2024

Acute proximal weakness and paraesthesiae.

Acute proximal weakness and paraesthesiae.

Journal: Practical neurology

Published: March 16, 2024

Women with Gaucher Disease.

Women with Gaucher Disease.

Journal: Biomedicines

Published: February 04, 2024

Identification of patient-reported outcomes measures (PROMs) and patient-reported experiences measures (PREMs) in Gaucher disease in Spain.

Identification of patient-reported outcomes measures (PROMs) and patient-reported experiences measures (PREMs) in Gaucher disease in Spain.

Journal: Medicina clinica

Published: December 23, 2023

Showing 1-12 of 46

Last Updated: 09/26/2026