Works by Martín‐Hernández, Elena
Results: 26
Author’s Reply: TK2-related Myopathic Mitochondrial Depletion Syndrome.
- Published in:
- 2018
- By:
- Publication type:
- Letter to the Editor
Myopathic mtDNA Depletion Syndrome Due to Mutation in TK2 Gene.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
First splicing variant in HECW2 with an autosomal recessive pattern of inheritance and associated with NDHSAL.
- Published in:
- Human Mutation, 2022, v. 43, n. 10, p. 1361, doi. 10.1002/humu.24426
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- Publication type:
- Article
Whole-Exome Sequencing Identifies a Variant of the Mitochondrial MT- ND1 Gene Associated with Epileptic Encephalopathy: West Syndrome Evolving to Lennox- Gastaut Syndrome.
- Published in:
- Human Mutation, 2013, v. 34, n. 12, p. 1623, doi. 10.1002/humu.22445
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- Publication type:
- Article
MAST1 variant causes mega‐corpus‐callosum syndrome with cortical malformations but without cerebellar hypoplasia.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1483, doi. 10.1002/ajmg.a.61560
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- Publication type:
- Article
Perinatal management and follow-up in a child with a prenatal diagnosis of OTC deficiency: a case report.
- Published in:
- Frontiers in Nutrition, 2024, p. 1, doi. 10.3389/fnut.2024.1416466
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- Publication type:
- Article
Perinatal management and follow-up in a child with a prenatal diagnosis of OTC deficiency: a case report.
- Published in:
- Frontiers in Nutrition, 2024, p. 1, doi. 10.3389/fnut.2024.1416466
- By:
- Publication type:
- Article
Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain.
- Published in:
- Journal of Clinical Medicine, 2022, v. 11, n. 17, p. 5045, doi. 10.3390/jcm11175045
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- Publication type:
- Article
Lymphocyte Medium-Chain Acyl-CoA Dehydrogenase Activity and Its Potential as a Diagnostic Confirmation Tool in Newborn Screening Cases.
- Published in:
- Journal of Clinical Medicine, 2022, v. 11, n. 10, p. 2933, doi. 10.3390/jcm11102933
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- Publication type:
- Article
Genes and Variants Underlying Human Congenital Lactic Acidosis—From Genetics to Personalized Treatment.
- Published in:
- Journal of Clinical Medicine, 2019, v. 8, n. 11, p. 1811, doi. 10.3390/jcm8111811
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- Publication type:
- Article
Newborn screening for propionic, methylmalonic acidemia and vitamin B12 deficiency. Analysis of 588,793 newborns.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2022, v. 35, n. 10, p. 1223, doi. 10.1515/jpem-2022-0340
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- Publication type:
- Article
Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 2, p. 146, doi. 10.1002/jmd2.12265
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- Publication type:
- Article
Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy.
- Published in:
- 2019
- By:
- Publication type:
- journal article
A novel de novo mutation in the PURA gene associated with a new clinical finding: large brainstem.
- Published in:
- Journal of Genetics, 2020, v. 99, n. 1, p. 1, doi. 10.1007/s12041-019-1165-3
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- Publication type:
- Article
New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy.
- Published in:
- Neurogenetics, 2016, v. 17, n. 4, p. 259, doi. 10.1007/s10048-016-0496-y
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- Publication type:
- Article
First missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol trafficking.
- Published in:
- Neurogenetics, 2016, v. 17, n. 1, p. 51, doi. 10.1007/s10048-015-0463-z
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- Publication type:
- Article
Clinical and molecular diagnosis of non‐phosphomannomutase 2 N‐linked congenital disorders of glycosylation in Spain.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 5, p. 615, doi. 10.1111/cge.13508
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- Publication type:
- Article
Renal pathology in children with mitochondrial diseases.
- Published in:
- Pediatric Nephrology, 2005, v. 20, n. 9, p. 1299, doi. 10.1007/s00467-005-1948-z
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- Publication type:
- Article
Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 21, p. 12850, doi. 10.3390/ijms232112850
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- Publication type:
- Article
Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 187, doi. 10.1186/s13023-014-0187-4
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- Publication type:
- Article
Perioperative management of children with urea cycle disorders.
- Published in:
- Pediatric Anesthesia, 2020, v. 30, n. 7, p. 780, doi. 10.1111/pan.13905
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- Publication type:
- Article
Functional splicing assay supporting that c.70 + 5G > A mutation in the MPV17 gene is disease causing.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 293, doi. 10.1007/s10545-010-9155-x
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- Publication type:
- Article
Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Recommendations for the Diagnosis and Therapeutic Management of Hyperammonaemia in Paediatric and Adult Patients.
- Published in:
- Nutrients, 2022, v. 14, n. 13, p. 2755, doi. 10.3390/nu14132755
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- Publication type:
- Article
A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome.
- Published in:
- BMC Nephrology, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2369-14-195
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- Publication type:
- Article
A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome.
- Published in:
- 2013
- By:
- Publication type:
- journal article