Found: 29
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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
Clinical, genetic and quality-of-life study of a cohort of adult patients with tuberous sclerosis.
- Published in:
- 2021
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- Publication type:
- journal article
Ecology of large felids and their prey in small reserves of the Yucatán Peninsula of Mexico.
- Published in:
- Journal of Mammalogy, 2023, v. 104, n. 1, p. 115, doi. 10.1093/jmammal/gyac090
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- Publication type:
- Article
Real life data: follow-up assessment on Spanish Gaucher disease patients treated with eliglustat. TRAZELGA project.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02939-4
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- Publication type:
- Article
Magnetic resonance spectroscopy in MELAS syndrome: correlation with CSF and plasma metabolite levels and change after glutamine supplementation.
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- Neuroradiology, 2024, v. 66, n. 3, p. 389, doi. 10.1007/s00234-023-03263-1
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- Article
LOS CONGRESOS DE INDUSTRIA CONECTADA 4.0: GÉNESIS, EVOLUCIÓN Y FUTURAS LÍNEAS DE ACTUACIÓN.
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- Economía Industrial, 2019, n. 414, p. 143
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- Publication type:
- Article
A novel de novo mutation in the PURA gene associated with a new clinical finding: large brainstem.
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- Journal of Genetics, 2020, v. 99, n. 1, p. 1, doi. 10.1007/s12041-019-1165-3
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- Article
Women with Gaucher Disease.
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- Biomedicines, 2024, v. 12, n. 3, p. 579, doi. 10.3390/biomedicines12030579
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- Publication type:
- Article
High Prevalence of Insulin Resistance in Asymptomatic Patients with Acute Intermittent Porphyria and Liver-Targeted Insulin as a Novel Therapeutic Approach.
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- Biomedicines, 2021, v. 9, n. 3, p. 255, doi. 10.3390/biomedicines9030255
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- Article
Fragile X Syndrome Caused by Maternal Somatic Mosaicism of FMR1 Gene: Case Report and Literature Review.
- Published in:
- 2022
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- Publication type:
- Case Study
High‐dose oral glutamine supplementation reduces elevated glutamate levels in cerebrospinal fluid in patients with mitochondrial encephalomyopathy, lactic acidosis and stroke‐like episodes syndrome.
- Published in:
- European Journal of Neurology, 2023, v. 30, n. 2, p. 538, doi. 10.1111/ene.15626
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- Publication type:
- Article
Partial characterization of chayotextle starch composites with added polyvinyl alcohol.
- Published in:
- Starch / Staerke, 2015, v. 67, n. 3/4, p. 355, doi. 10.1002/star.201400184
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- Publication type:
- Article
Serum GDF-15 Levels Accurately Differentiate Patients with Primary Mitochondrial Myopathy, Manifesting with Exercise Intolerance and Fatigue, from Patients with Chronic Fatigue Syndrome.
- Published in:
- Journal of Clinical Medicine, 2023, v. 12, n. 6, p. 2435, doi. 10.3390/jcm12062435
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- Publication type:
- Article
Transferrin Isoforms, Old but New Biomarkers in Hereditary Fructose Intolerance.
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- Journal of Clinical Medicine, 2021, v. 10, n. 13, p. 2932, doi. 10.3390/jcm10132932
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- Publication type:
- Article
Correction: Vitamin C and folate status in hereditary fructose intolerance.
- Published in:
- 2023
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- Publication type:
- Correction Notice
Vitamin C and folate status in hereditary fructose intolerance.
- Published in:
- 2022
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- Publication type:
- journal article
Blue ears: a clue to diagnosis of alkaptonuria identified via telemedicine consultation.
- Published in:
- Clinical & Experimental Dermatology, 2022, v. 47, n. 4, p. 806, doi. 10.1111/ced.15056
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- Publication type:
- Article
Understanding the ecosystem of patients with lysosomal storage diseases in Spain: a qualitative research with patients and health care professionals.
- Published in:
- 2022
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- Publication type:
- journal article
Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience.
- Published in:
- 2021
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- Publication type:
- journal article
Recommendations on the follow‐up of patients with Gaucher disease in Spain: Results from a Delphi survey.
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- Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 1, p. 90, doi. 10.1002/jmd2.12342
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- Publication type:
- Article
Diagnosis and Management of Inborn Errors of Metabolism in Adult Patients in the Emergency Department.
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- Diagnostics (2075-4418), 2021, v. 11, n. 11, p. 2148, doi. 10.3390/diagnostics11112148
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- Publication type:
- Article
Recomendaciones de manejo de la afectación renal en el complejo esclerosis tuberosa.
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- Nefrologia, 2020, v. 40, n. 2, p. 142, doi. 10.1016/j.nefro.2019.07.002
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- Publication type:
- Article
Acute intermittent porphyria, givosiran, and homocysteine.
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- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 790, doi. 10.1002/jimd.12411
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- Publication type:
- Article
Elevated glutamate and decreased glutamine levels in the cerebrospinal fluid of patients with MELAS syndrome.
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- Journal of Neurology, 2022, v. 269, n. 6, p. 3238, doi. 10.1007/s00415-021-10942-7
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- Publication type:
- Article
Headache and sleep quality in mitochondrial diseases.
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- Cephalalgia Reports, 2023, v. 6, p. 1, doi. 10.1177/25158163231199252
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- Publication type:
- Article
Plasma Gelsolin Reinforces the Diagnostic Value of FGF-21 and GDF-15 for Mitochondrial Disorders.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 12, p. 6396, doi. 10.3390/ijms22126396
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- Publication type:
- Article
Characterization of New Proteomic Biomarker Candidates in Mucopolysaccharidosis Type IVA.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 1, p. 226, doi. 10.3390/ijms22010226
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- Publication type:
- Article
First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center.
- Published in:
- Neurogenetics, 2021, v. 22, n. 4, p. 343, doi. 10.1007/s10048-021-00660-7
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- Publication type:
- Article
Understanding Carbohydrate Metabolism and Insulin Resistance in Acute Intermittent Porphyria.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 1, p. 51, doi. 10.3390/ijms24010051
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- Publication type:
- Article