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Quality considerations and major pitfalls for high throughput DNA-based newborn screening for severe combined immunodeficiency and spinal muscular atrophy.
- Published in:
- PLoS ONE, 2024, v. 19, n. 6, p. 1, doi. 10.1371/journal.pone.0306329
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- Article
Neurological outcome in long‐chain hydroxy fatty acid oxidation disorders.
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- Annals of Clinical & Translational Neurology, 2024, v. 11, n. 4, p. 883, doi. 10.1002/acn3.52002
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- Article
Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples.
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- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 6, p. 1043, doi. 10.1002/jimd.12671
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- Article
Free carnitine concentrations and biochemical parameters in medium‐chain acyl‐CoA dehydrogenase deficiency: Genotype–phenotype correlation.
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- Clinical Genetics, 2023, v. 103, n. 6, p. 644, doi. 10.1111/cge.14316
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- Article
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision.
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- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 3, p. 482, doi. 10.1002/jimd.12566
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- Article
Optical Coherence Tomography: Retinal Imaging Contributes to the Understanding of Brain Pathology in Classical Galactosemia.
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- Journal of Clinical Medicine, 2023, v. 12, n. 5, p. 2030, doi. 10.3390/jcm12052030
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- Article
Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria.
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- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 6, p. 1070, doi. 10.1002/jimd.12544
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- Article
Serum glial fibrillary acidic protein and neurofilament light chain in patients with early treated phenylketonuria.
- Published in:
- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.1011470
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- Article
Correction: Spenger et al. Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families. Int. J. Neonatal Screen. 2021, 7 , 32.
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- 2022
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- Correction Notice
Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset.
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- 2022
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- Publication type:
- journal article
Optical Coherence Tomography to Assess Neurodegeneration in Phenylalanine Hydroxylase Deficiency.
- Published in:
- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.780624
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- Article
Efficacy and safety of arimoclomol in Niemann‐Pick disease type C: Results from a double‐blind, randomised, placebo‐controlled, multinational phase 2/3 trial of a novel treatment.
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- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 6, p. 1463, doi. 10.1002/jimd.12428
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- Article
Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families.
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- International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 2, p. 1, doi. 10.3390/ijns7020032
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- Article
Correction to: Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort study.
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- 2021
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- Publication type:
- corrected article
Subcutaneous vitamin B12 administration using a portable infusion pump in cobalamin-related remethylation disorders: a gentle and easy to use alternative to intramuscular injections.
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- 2021
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- Publication type:
- journal article
Impact of interventional and non‐interventional variables on anthropometric long‐term development in glutaric aciduria type 1: A national prospective multi‐centre study.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 629, doi. 10.1002/jimd.12335
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- Article
Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort study.
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- 2020
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- Publication type:
- journal article
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
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- 2020
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- Publication type:
- journal article
Ernährung bei angeborenen Stoffwechselerkrankungen – ein Spagat zwischen Genuss und Therapie.
- Published in:
- Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz, 2020, v. 63, n. 7, p. 864, doi. 10.1007/s00103-020-03168-x
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- Article
Retinal axonal degeneration in Niemann–Pick type C disease.
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- Journal of Neurology, 2020, v. 267, n. 7, p. 2070, doi. 10.1007/s00415-020-09796-2
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- Article
Diagnostic Challenges Using a 2-Tier Strategy for Methylmalonic Acidurias: Data from 1.2 Million Dried Blood Spots.
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- Annals of Nutrition & Metabolism, 2020, v. 76, n. 4, p. 268, doi. 10.1159/000508838
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- Article
Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency.
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- 2018
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- Publication type:
- journal article
Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype.
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- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0254-5
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- Publication type:
- Article
Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD).
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- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0236-7
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- Publication type:
- Article
Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype.
- Published in:
- 2015
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- Publication type:
- journal article
The Domain-Specific and Temperature-Dependent Protein Misfolding Phenotype of Variant Medium-Chain acyl-CoA Dehydrogenase.
- Published in:
- PLoS ONE, 2014, v. 9, n. 4, p. 1, doi. 10.1371/journal.pone.0093852
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- Article
What are effects of a spaced activation of virtual patients in a pediatric course?
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- BMC Medical Education, 2013, v. 13, n. 1, p. 1, doi. 10.1186/1472-6920-13-45
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- Article
Newborn Screening for Isovaleric Acidemia Using Tandem Mass Spectrometry: Data from 1.6 Million Newborns.
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- Clinical Chemistry, 2011, v. 57, n. 4, p. 623, doi. 10.1373/clinchem.2010.151134
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- Article
Use of guidelines improves the neurological outcome in glutaric aciduria type I.
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- Annals of Neurology, 2010, v. 68, n. 5, p. 743, doi. 10.1002/ana.22095
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- Article
Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I.
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- Brain: A Journal of Neurology, 2009, v. 132, n. 7, p. 1764, doi. 10.1093/brain/awp112
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- Article
Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screening.
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- Human Molecular Genetics, 2009, v. 18, n. 9, p. 1612, doi. 10.1093/hmg/ddp079
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- Article
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment.
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- Human Mutation, 2006, v. 27, n. 8, p. 748, doi. 10.1002/humu.20349
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- Article
Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency.
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- Human Mutation, 2005, v. 25, n. 5, p. 443, doi. 10.1002/humu.20163
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- Article
Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene.
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- Annals of Neurology, 2004, v. 56, n. 4, p. 560, doi. 10.1002/ana.20229
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- Article
True Hermaphroditism in an XY Individual due to a Familial Point Mutation of the SRY Gene.
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- Journal of Pediatric Endocrinology & Metabolism, 2003, v. 16, n. 4, p. 575, doi. 10.1515/jpem.2003.16.4.575
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- Article
Symptoms in carriers of adrenoleukodystrophy relate to skewed X inactivation.
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- Annals of Neurology, 2002, v. 52, n. 5, p. 683, doi. 10.1002/ana.10376
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- Publication type:
- Article
Prenatal diagnosis of X-linked adrenoleukodystrophy combining biochemical, immunocytochemical and DNA analyses.
- Published in:
- Prenatal Diagnosis, 1999, v. 19, n. 4, p. 364, doi. 10.1002/(SICI)1097-0223(199904)19:4<364::AID-PD525>3.0.CO;2-W
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- Article