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Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-102
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- Publication type:
- Article
Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Diagnostic Odyssey in an Adult Patient with Ophthalmologic Abnormalities and Hearing Loss: Contribution of RNA-Seq to the Diagnosis of a PEX1 Deficiency.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 20, p. 12367, doi. 10.3390/ijms232012367
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- Publication type:
- Article
Physiopathological Bases of the Disease Caused by HACE1 Mutations: Alterations in Autophagy, Mitophagy and Oxidative Stress Response.
- Published in:
- Journal of Clinical Medicine, 2020, v. 9, n. 4, p. 913, doi. 10.3390/jcm9040913
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- Publication type:
- Article
Fatty Acid Transport Protein 1 (FATP1) Localizes in Mitochondria in Mouse Skeletal Muscle and Regulates Lipid and Ketone Body Disposal.
- Published in:
- PLoS ONE, 2014, v. 9, n. 5, p. 1, doi. 10.1371/journal.pone.0098109
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- Publication type:
- Article
Transición coordinada del paciente con cistinosis desde la medicina pediátrica a la medicina del adulto.
- Published in:
- Nefrologia, 2016, v. 36, n. 6, p. 616, doi. 10.1016/j.nefro.2016.05.012
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- Publication type:
- Article
Cistinosis en pacientes adolescentes y adultos: recomendaciones para la atención integral de la cistinosis.
- Published in:
- Nefrologia, 2015, v. 35, n. 3, p. 304, doi. 10.1016/j.nefro.2015.05.019
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- Publication type:
- Article
Preparing Enteral Formulas for Adult Patients with Phenylketonuria: A Minor Necessity but Major Challenge—A Case Report.
- Published in:
- Journal of Clinical Medicine, 2023, v. 12, n. 23, p. 7452, doi. 10.3390/jcm12237452
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- Publication type:
- Article
Lysinuric Protein Intolerance and Its Nutritional and Multisystemic Challenges in Pregnancy: A Case Report and Literature Review.
- Published in:
- Journal of Clinical Medicine, 2023, v. 12, n. 19, p. 6405, doi. 10.3390/jcm12196405
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- Publication type:
- Article
Reply to He et al.
- Published in:
- 2011
- By:
- Publication type:
- Letter
X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17β-hydroxysteroid dehydrogenase 10 deficiency.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1353, doi. 10.1038/ejhg.2010.118
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- Publication type:
- Article
Inter-rater reliability assessment for the new-born screening quality assurance.
- Published in:
- Biochemia Medica, 2022, v. 32, n. 3, p. 1, doi. 10.11613/BM.2022.030901
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- Publication type:
- Article
Correction to: implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02793-4
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- Publication type:
- Article
FLAD1, encoding FAD synthase, is mutated in a patient with myopathy, scoliosis and cataracts.
- Published in:
- 2018
- By:
- Publication type:
- Letter to the Editor
Implementation of second-tier tests in newborn screening for the detection of vitamin B<sub>12</sub> related acquired and genetic disorders: results on 258,637 newborns.
- Published in:
- 2021
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- Publication type:
- journal article
CRISPR/Cas9‐based functional genomics strategy to decipher the pathogenicity of genetic variants in inherited metabolic disorders.
- Published in:
- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 6, p. 1029, doi. 10.1002/jimd.12681
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- Publication type:
- Article
Dysregulation of homocysteine homeostasis in acute intermittent porphyria patients receiving heme arginate or givosiran.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 961, doi. 10.1002/jimd.12391
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- Publication type:
- Article
Treatment effect of coenzyme Q and an antioxidant cocktail in fibroblasts of patients with Sanfilippo disease.
- Published in:
- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 3, p. 439, doi. 10.1007/s10545-013-9668-1
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- Publication type:
- Article
Characterization of CoQ biosynthesis in fibroblasts of patients with primary and secondary CoQ deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 1, p. 53, doi. 10.1007/s10545-013-9620-4
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- Publication type:
- Article
Technical Aspects of Coenzyme Q 10 Analysis: Validation of a New HPLC-ED Method.
- Published in:
- Antioxidants, 2022, v. 11, n. 3, p. 528, doi. 10.3390/antiox11030528
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- Publication type:
- Article
Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 7, p. 1907, doi. 10.1093/hmg/ddt585
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- Publication type:
- Article
Volumetric brain reductions in adult patients with phenylketonuria and their relationship with blood phenylalanine levels.
- Published in:
- Journal of Neurodevelopmental Disorders, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s11689-024-09553-w
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- Publication type:
- Article
Apo AIV and Citrulline Plasma Concentrations in Short Bowel Syndrome Patients: The Influence of Short Bowel Anatomy.
- Published in:
- PLoS ONE, 2016, v. 11, n. 9, p. 1, doi. 10.1371/journal.pone.0163762
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- Publication type:
- Article
Early Diagnosis and Treatment of Purine Nucleoside Phosphorylase (PNP) Deficiency through TREC-Based Newborn Screening.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 4, p. 62, doi. 10.3390/ijns7040062
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- Publication type:
- Article
Newborn Screening for SCID: Experience in Spain (Catalonia).
- Published in:
- International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030046
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- Publication type:
- Article
Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology.
- Published in:
- Human Mutation, 2019, v. 40, n. 10, p. 1700, doi. 10.1002/humu.23779
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- Publication type:
- Article
Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C ( cblC) with homocystinuria (MMACHC).
- Published in:
- Human Mutation, 2009, v. 30, n. 11, p. 1558, doi. 10.1002/humu.21107
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- Publication type:
- Article
Functional Evidence of CCDC186 as a New Disease-Associated Gene with Endocrine and Central Nervous System Alterations.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 15, p. 12319, doi. 10.3390/ijms241512319
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- Publication type:
- Article
Ghrelin Causes a Decline in GABA Release by Reducing Fatty Acid Oxidation in Cortex.
- Published in:
- Molecular Neurobiology, 2018, v. 55, n. 9, p. 7216, doi. 10.1007/s12035-018-0921-3
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- Publication type:
- Article
Targeted ultra performance liquid chromatography tandem mass spectrometry procedures for the diagnosis of inborn errors of metabolism: validation through ERNDIM external quality assessment schemes.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2024, v. 62, n. 10, p. 1991, doi. 10.1515/cclm-2023-1291
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- Publication type:
- Article
Analysis of a second-tier test panel in dried blood spot samples using liquid chromatography-tandem mass spectrometry in Catalonia's newborn screening programme.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2024, v. 62, n. 3, p. 493, doi. 10.1515/cclm-2023-0216
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- Publication type:
- Article