Maria T. Silva-Garcia

Madrid, MD 28041, Spain

Last Updated: 09/26/2026

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Found 29 publications

Recommendations for the Diagnosis and Therapeutic Management of Hyperammonaemia in Paediatric and Adult Patients.

Recommendations for the Diagnosis and Therapeutic Management of Hyperammonaemia in Paediatric and Adult Patients.

Journal: Nutrients

Published: May 24, 2022

Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.

Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.

Journal: JIMD reports

Published: September 27, 2021

Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience.

Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience.

Journal: Orphanet journal of rare diseases

Published: February 19, 2021

Distal phalangeal erythema in an infant with biallelic PDSS1 mutations: Expanding the phenotype of primary Coenzyme Q10 deficiency.

Distal phalangeal erythema in an infant with biallelic PDSS1 mutations: Expanding the phenotype of primary Coenzyme Q10 deficiency.

Journal: JIMD reports

Published: February 10, 2021

New subtype of PCH1C caused by novel EXOSC8 variants in a 16-year-old Spanish patient.

New subtype of PCH1C caused by novel EXOSC8 variants in a 16-year-old Spanish patient.

Journal: Neuromuscular disorders : NMD

Published: October 09, 2020

Newborn Screening Program in the Community of Madrid: evaluation of positive cases.

Newborn Screening Program in the Community of Madrid: evaluation of positive cases.

Journal: Revista espanola de salud publica

Published: October 02, 2020

Genes and Variants Underlying Human Congenital Lactic Acidosis-From Genetics to Personalized Treatment.

Genes and Variants Underlying Human Congenital Lactic Acidosis-From Genetics to Personalized Treatment.

Journal: Journal of clinical medicine

Published: October 08, 2019

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.

Journal: Journal of inherited metabolic disease

Published: February 19, 2019

Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain.

Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain.

Journal: Clinical genetics

Published: November 23, 2018

Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology.

Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology.

Journal: Human mutation

Published: October 10, 2018

Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program.

Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program.

Journal: European journal of human genetics : EJHG

Published: June 04, 2018

Myopathic mtDNA Depletion Syndrome Due to Mutation in TK2 Gene.

Myopathic mtDNA Depletion Syndrome Due to Mutation in TK2 Gene.

Journal: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society

Published: August 16, 2017

Showing 1-12 of 29

Last Updated: 09/26/2026