Found: 11
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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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- Article
Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.
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- Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 2, p. 146, doi. 10.1002/jmd2.12265
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- Article
Distal phalangeal erythema in an infant with biallelic PDSS1 mutations: Expanding the phenotype of primary Coenzyme Q<sub>10</sub> deficiency.
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- Journal of Inherited Metabolic Disease Reports, 2021, v. 62, n. 1, p. 3, doi. 10.1002/jmd2.12216
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- Article
Pediatric status epilepticus: Identification of prognostic factors using the new ILAE classification after 5 years of follow‐up.
- Published in:
- Epilepsia (Series 4), 2019, v. 60, n. 12, p. 2486, doi. 10.1111/epi.16385
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- Article
Photosensitivity is an early marker of neuronal ceroid lipofuscinosis type 2 disease.
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- Epilepsia (Series 4), 2017, v. 58, n. 8, p. 1380, doi. 10.1111/epi.13820
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- Article
Vigabatrin efficacy in GPR56-associated polymicrogyria: The role of GABA<sub>A</sub> receptor pathway.
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- Epilepsia (Series 4), 2016, v. 57, n. 8, p. 1337, doi. 10.1111/epi.13453
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- Article
Expanding the phenotypic spectrum of BCS1L‐related mitochondrial disease.
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- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 11, p. 2155, doi. 10.1002/acn3.51470
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- Article
Neuroimaging in Primary Coenzyme-Q 10 -Deficiency Disorders.
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- Antioxidants, 2023, v. 12, n. 3, p. 718, doi. 10.3390/antiox12030718
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- Article
Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group.
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- European Journal of Neurology, 2024, v. 31, n. 7, p. 1, doi. 10.1111/ene.16275
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- Article
First splicing variant in HECW2 with an autosomal recessive pattern of inheritance and associated with NDHSAL.
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- Human Mutation, 2022, v. 43, n. 10, p. 1361, doi. 10.1002/humu.24426
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- Article
The Genetic Landscape of Mitochondrial Diseases in Spain: A Nationwide Call.
- Published in:
- Genes, 2021, v. 12, n. 10, p. 1590, doi. 10.3390/genes12101590
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- Article