Found: 57
Select item for more details and to access through your institution.
Late‐onset Levodopa Responsive Parkinsonism Due to Polymerase γ 1 Mutations.
- Published in:
- Movement Disorders Clinical Practice, 2018, v. 5, n. 6, p. 645, doi. 10.1002/mdc3.12668
- By:
- Publication type:
- Article
Outcome of three cases of untreated maternal glutaric aciduria type I.
- Published in:
- 2008
- By:
- Publication type:
- journal article
A Novel SUCLA2 Mutation in a Portuguese Child Associated With “Mild” Methylmalonic Aciduria.
- Published in:
- Journal of Child Neurology, 2015, v. 30, n. 2, p. 228, doi. 10.1177/0883073814527158
- By:
- Publication type:
- Article
Iodineminho Study: Iodine Supplementation and Prevalence of Iodine Deficiency In Pregnant Women.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2024, v. 109, n. 11, p. e2065, doi. 10.1210/clinem/dgae041
- By:
- Publication type:
- Article
Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 17, p. 6355, doi. 10.3390/ijms21176355
- By:
- Publication type:
- Article
NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann‐Pick type C patient.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 11, p. 1, doi. 10.1002/mgg3.1451
- By:
- Publication type:
- Article
Identification of novel L2HGDH gene mutations and update of the pathological spectrum.
- Published in:
- Journal of Human Genetics, 2010, v. 55, n. 1, p. 55, doi. 10.1038/jhg.2009.110
- By:
- Publication type:
- Article
The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America.
- Published in:
- 2007
- By:
- Publication type:
- Correction Notice
The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America.
- Published in:
- Journal of Human Genetics, 2006, v. 51, n. 4, p. 305, doi. 10.1007/s10038-006-0362-0
- By:
- Publication type:
- Article
Characterization of a new PEPD allele causing prolidase deficiency in two unrelated patients: natural-occurrent mutations as a tool to investigate structure-function relationship.
- Published in:
- Journal of Human Genetics, 2004, v. 49, n. 9, p. 500, doi. 10.1007/s10038-004-0180-1
- By:
- Publication type:
- Article
Follow-up of fatty acid β-oxidation disorders in expanded newborn screening era.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Diagnosis, management, and follow-up of mitochondrial disorders in childhood: a personalized medicine in the new era of genome sequence.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Impact of iodine supplementation during preconception, pregnancy and lactation on maternal thyroid homeostasis and offspring psychomotor development: protocol of the IodineMinho prospective study.
- Published in:
- 2020
- By:
- Publication type:
- journal article
LEIGH SYNDROME: A CASE REPORT WITH A MITOCHONDRIAL DNA MUTATION.
- Published in:
- Revista Paulista de Pediatria, 2018, v. 36, n. 4, p. 519, doi. 10.1590/1984-0462/;2018;36;4;00003
- By:
- Publication type:
- Article
Clinical, biochemical, molecular, and histological features of 65 Portuguese patients with mitochondrial disorders.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Reply.
- Published in:
- 2017
- By:
- Publication type:
- Letter
Cardiomyopathy and Kidney Disease in a Patient with Maternally Inherited Diabetes and Deafness Caused by the 3243A>G Mutation of Mitochondrial DNA.
- Published in:
- Cardiology, 2010, v. 115, n. 1, p. 71, doi. 10.1159/000252811
- By:
- Publication type:
- Article
Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 1, p. 56, doi. 10.1038/ejhg.2010.134
- By:
- Publication type:
- Article
De Barsy syndrome and ATP6V0A2-CDG.
- Published in:
- 2010
- By:
- Publication type:
- Letter
Maternally inherited deafness associated with a T1095C mutation in the mDNA.
- Published in:
- European Journal of Human Genetics, 2001, v. 9, n. 2, p. 147, doi. 10.1038/sj.ejhg.5200601
- By:
- Publication type:
- Article
MtDNA-related idiopathic dilated cardiomyopathy.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 8, p. 847, doi. 10.1038/sj.ejhg.5200380
- By:
- Publication type:
- Article
Hyperammonaemic encephalopathy in a teenage girl.
- Published in:
- Journal of Paediatrics & Child Health, 2022, v. 58, n. 7, p. 1270, doi. 10.1111/jpc.15824
- By:
- Publication type:
- Article
Iron‐sulfur cluster ISD11 deficiency (LYRM4 gene) presenting as cardiorespiratory arrest and 3‐methylglutaconic aciduria.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2019, v. 49, n. 1, p. 11, doi. 10.1002/jmd2.12058
- By:
- Publication type:
- Article
Revisiting MSUD in Portuguese Gypsies: Evidence for a Founder Mutation and for a Mutational Hotspot within the BCKDHA Gene.
- Published in:
- Annals of Human Genetics, 2009, v. 73, n. 3, p. 298, doi. 10.1111/j.1469-1809.2009.00518.x
- By:
- Publication type:
- Article
Clinical, biochemical and molecular findings of 24 Brazilian patients with glutaric acidemia type 1: 4 novel mutations in the GCDH gene.
- Published in:
- Metabolic Brain Disease, 2021, v. 36, n. 2, p. 205, doi. 10.1007/s11011-020-00632-0
- By:
- Publication type:
- Article
Correction to: Molecular basis of Leigh syndrome: a current look.
- Published in:
- 2020
- By:
- Publication type:
- corrected article
Molecular basis of Leigh syndrome: a current look.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Maple syrup disease presenting as paroxysmal dystonia.
- Published in:
- Annals of Neurology, 2004, v. 56, n. 5, p. 749
- By:
- Publication type:
- Article
Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 1, p. 21, doi. 10.1007/s10545-016-9991-4
- By:
- Publication type:
- Article
Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases.
- Published in:
- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 835, doi. 10.1007/s10545-011-9287-7
- By:
- Publication type:
- Article
Neonatal cholestasis: an uncommon presentation of hyperargininemia.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 503, doi. 10.1007/s10545-010-9263-7
- By:
- Publication type:
- Article
Four years of expanded newborn screening in Portugal with tandem mass spectrometry.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 133, doi. 10.1007/s10545-010-9048-z
- By:
- Publication type:
- Article
ONGOING ACTIVITIES AND PROSPECTS RELATED TO WELDING TECHNOLOGY AT LAPROSOLDA--BRAZIL.
- Published in:
- Paton Welding Journal, 2013, n. 10/11, p. 96
- By:
- Publication type:
- Article
Mitochondrial DNA Analysis in Ocular Myopathy.
- Published in:
- European Neurology, 1998, v. 39, n. 3, p. 148, doi. 10.1159/000007925
- By:
- Publication type:
- Article
Lipid, Oxidative and Inflammatory Profile and Alterations in the Enzymes Paraoxonase and Butyrylcholinesterase in Plasma of Patients with Homocystinuria Due CBS Deficiency: The Vitamin B and Folic Acid Importance.
- Published in:
- Cellular & Molecular Neurobiology, 2015, v. 35, n. 6, p. 899, doi. 10.1007/s10571-015-0185-7
- By:
- Publication type:
- Article
Portuguese Neonatal Screening Program: A Cohort Study of 18 Years Using MS/MS.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 25, doi. 10.3390/ijns10010025
- By:
- Publication type:
- Article
History of Neonatal Screening of Congenital Hypothyroidism in Portugal.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 16, doi. 10.3390/ijns10010016
- By:
- Publication type:
- Article
Role of RNA in Molecular Diagnosis of MADD Patients.
- Published in:
- Biomedicines, 2021, v. 9, n. 5, p. 507, doi. 10.3390/biomedicines9050507
- By:
- Publication type:
- Article
A Comprehensive Approach to the Diagnosis of Leigh Syndrome Spectrum.
- Published in:
- Diagnostics (2075-4418), 2024, v. 14, n. 19, p. 2133, doi. 10.3390/diagnostics14192133
- By:
- Publication type:
- Article
Molecular Characterization of a Novel Splicing Mutation Underlying Mucopolysaccharidosis (MPS) Type VI—Indirect Proof of Principle on Its Pathogenicity.
- Published in:
- Diagnostics (2075-4418), 2020, v. 10, n. 2, p. 58, doi. 10.3390/diagnostics10020058
- By:
- Publication type:
- Article
Molecular Investigation of Pediatric Portuguese Patients with Sensorineural Hearing Loss.
- Published in:
- Genetics Research International, 2011, p. 1, doi. 10.4061/2011/587602
- By:
- Publication type:
- Article
Novel MTO1 mutations associated with an intrafamilial phenotypic variability.
- Published in:
- Egyptian Journal of Medical Human Genetics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s43042-023-00387-0
- By:
- Publication type:
- Article
Infantile-Onset Disorders of Mitochondrial Replication and Protein Synthesis.
- Published in:
- Journal of Child Neurology, 2011, v. 26, n. 7, p. 866, doi. 10.1177/0883073811402072
- By:
- Publication type:
- Article
Syndromes associated with mitochondrial DNA depletion.
- Published in:
- Italian Journal of Pediatrics, 2014, v. 40, n. 1, p. 1, doi. 10.1186/1824-7288-40-34
- By:
- Publication type:
- Article
Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients.
- Published in:
- Human Mutation, 2011, v. 32, n. 7, p. 835, doi. 10.1002/humu.21514
- By:
- Publication type:
- Article
cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression.
- Published in:
- Human Mutation, 2005, v. 26, n. 6, p. 590, doi. 10.1002/humu.20270
- By:
- Publication type:
- Article
cblE Type of homocystinuria due to methionine synthase reductase deficiency: Functional correction by minigene expression.
- Published in:
- Human Mutation, 2005, v. 25, n. 3, p. 239, doi. 10.1002/humu.20131
- By:
- Publication type:
- Article
Evidence for mutational cis-acting factors affecting mutagenesis in the ornithine transcarbamylase gene.
- Published in:
- Human Mutation, 2004, v. 24, n. 3, p. 273, doi. 10.1002/humu.9268
- By:
- Publication type:
- Article
Leigh Syndrome Spectrum: A Portuguese Population Cohort in an Evolutionary Genetic Era.
- Published in:
- Genes, 2023, v. 14, n. 8, p. 1536, doi. 10.3390/genes14081536
- By:
- Publication type:
- Article
Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency.
- Published in:
- Neurogenetics, 2013, v. 14, n. 2, p. 153, doi. 10.1007/s10048-013-0361-1
- By:
- Publication type:
- Article