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Santiago Ramón-Maiques

12PUBLICATIONS

46CO-AUTHORS

Infant and child healthHaematologyMolecular medicineBiologically active moleculesNeurology and neuromuscular diseases

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Publications (12)

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|Apr 18, 2025

Epileptic encephalopathy in a young Bengal cat caused by CAD deficiency.

Adriana Kaczmarska, Matthias Christen, Francisco Del Caño-Ochoa

|Nov 20, 2023

Biallelic hypomorphic variants in CAD cause uridine-responsive macrocytic anaemia with elevated haemoglobin-A2.

Orna Steinberg-Shemer, Joanne Yacobovich, Sharon Noy-Lotan

|Aug 04, 2023

Beyond genetics: Deciphering the impact of missense variants in CAD deficiency.

Francisco Del Caño-Ochoa, Bobby G Ng, Antonio Rubio-Del-Campo

|Jan 21, 2023

A Tailored Strategy to Crosslink the Aspartate Transcarbamoylase Domain of the Multienzymatic Protein CAD.

Francisco Del Caño-Ochoa, Antonio Rubio-Del-Campo, Santiago Ramón-Maiques

|Apr 08, 2022

Functional and structural deficiencies of Gemin5 variants associated with neurological disorders.

Rosario Francisco-Velilla, Azman Embarc-Buh, Francisco Del Caño-Ochoa

|Dec 03, 2021

Insight on molecular pathogenesis and pharmacochaperoning potential in phosphomannomutase 2 deficiency, provided by novel human phosphomannomutase 2 structures.

Alvaro Briso-Montiano, Francisco Del Caño-Ochoa, Alicia Vilas

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Frequent Collaborators

11 joint publications

Francisco Del Caño-Ochoa

2 joint publications

Marçal Vilar

2 joint publications

Adrián Velázquez-Campoy

1 joint publications

Araceli Grande-García

1 joint publications

Mark Kalisz

1 joint publications

David Andreu

1 joint publications

Carlos Caldas

1 joint publications

Jason S Carroll

1 joint publications

Aleix Prat

1 joint publications

Francisco X Real

Frequent Collaborators

11 joint publications

Francisco Del Caño-Ochoa

2 joint publications

Marçal Vilar

2 joint publications

Adrián Velázquez-Campoy

1 joint publications

Araceli Grande-García

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