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Oxidative stress and apoptosis in homocystinuria patients with genetic remethylation defects.
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- Journal of Cellular Biochemistry, 2013, v. 114, n. 1, p. 183, doi. 10.1002/jcb.24316
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- Article
Qualitative and quantitative analysis of the effect of splicing mutations in propionic acidemia underlying non-severe phenotypes.
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- Human Genetics, 2004, v. 115, n. 3, p. 239, doi. 10.1007/s00439-004-1147-1
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- Article
Molecular epidemiology and genotype-phenotype correlation in phenylketonuria patients from South Spain.
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- Journal of Human Genetics, 2013, v. 58, n. 5, p. 279, doi. 10.1038/jhg.2013.16
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- Article
Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants.
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- 2018
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- Publication type:
- journal article
Pharmacological chaperones as a potential therapeutic option in methylmalonic aciduria cblB type.
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- Human Molecular Genetics, 2013, v. 22, n. 18, p. 3680, doi. 10.1093/hmg/ddt217
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- Article
Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing.
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- European Journal of Human Genetics, 2014, v. 22, n. 4, p. 528, doi. 10.1038/ejhg.2013.175
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- Article
Delivery of oligonucleotide‐based therapeutics: challenges and opportunities.
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- EMBO Molecular Medicine, 2021, v. 13, n. 4, p. 1, doi. 10.15252/emmm.202013243
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- Publication type:
- Article
Delivery is key: lessons learnt from developing splice-switching antisense therapies.
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- EMBO Molecular Medicine, 2017, v. 9, n. 5, p. 545, doi. 10.15252/emmm.201607199
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- Article
Tetrahydrobiopterin deficiency among Serbian patients presenting with hyperphenylalaninemia.
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- Journal of Pediatric Endocrinology & Metabolism, 2015, v. 28, n. 3/4, p. 477, doi. 10.1515/jpem-2014-0297
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- Article
Altered Redox Homeostasis in Branched-Chain Amino Acid Disorders, Organic Acidurias, and Homocystinuria.
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- Oxidative Medicine & Cellular Longevity, 2018, p. 1, doi. 10.1155/2018/1246069
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- Publication type:
- Article
O-GlcNAcylation enhances CPS1 catalytic efficiency for ammonia and promotes ureagenesis.
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- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-32904-x
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- Publication type:
- Article
Functional Characterization of Novel Phenylalanine Hydroxylase p.Gln226Lys Mutation Revealed Its Non-responsiveness to Tetrahydrobiopterin Treatment in Hepatoma Cellular Model.
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- Biochemical Genetics, 2018, v. 56, n. 5, p. 533, doi. 10.1007/s10528-018-9858-5
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- Article
Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 78, doi. 10.1186/s13023-014-0180-y
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- Publication type:
- Article
Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations.
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- 2014
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- Publication type:
- journal article
DPAGT1-CDG: Functional analysis of disease-causing pathogenic mutations and role of endoplasmic reticulum stress.
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- PLoS ONE, 2017, v. 12, n. 6, p. 1, doi. 10.1371/journal.pone.0179456
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- Publication type:
- Article
Functional characterization of the novel intronic nucleotide change c.288+9C>T within the BCKDHA gene: understanding a variant presentation of maple syrup urine disease.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 191, doi. 10.1007/s10545-010-9077-7
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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).
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- Human Mutation, 2009, v. 30, n. 11, p. 1558, doi. 10.1002/humu.21107
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- Article
Functional analysis of three splicing mutations identified in the PMM2 gene: Toward a new therapy for congenital disorder of glycosylation type Ia.
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- Human Mutation, 2009, v. 30, n. 5, p. 795, doi. 10.1002/humu.20960
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- Publication type:
- Article
Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations.
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- Human Mutation, 2004, v. 24, n. 5, p. 388, doi. 10.1002/humu.20097
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- Article
Phenylketonuria: Genotypephenotype correlations based on expression analysis of structural and functional mutations in PAH (For the PKU special issue).
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- Human Mutation, 2003, v. 21, n. 4, p. 370, doi. 10.1002/humu.10198
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- Article
Phenylketonuria: Genotype–phenotype correlations based on expression analysis of structural and functional mutations in PAHFor the PKU special issue.
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- Human Mutation, 2003, v. 21, n. 4, p. 370, doi. 10.1002/humu.10198
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- Publication type:
- Article
Overview of mutations in the PCCA and PCCB genes causing propionic acidemia.
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- Human Mutation, 1999, v. 14, n. 4, p. 275, doi. 10.1002/(SICI)1098-1004(199910)14:4<275::AID-HUMU1>3.0.CO;2-N
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- Publication type:
- Article
Identification of novel mutations in the PCCB gene in European propionic acidemia patients.
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- Human Mutation, 1999, v. 14, n. 1, p. 89, doi. 10.1002/(SICI)1098-1004(1999)14:1<89::AID-HUMU18>3.0.CO;2-5
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- Publication type:
- Article
Molecular characterization of phenylalanine hydroxylase deficiency in Chile.
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- Human Mutation, 1999, v. 13, n. 6, p. 503, doi. 10.1002/(SICI)1098-1004(1999)13:6<503::AID-HUMU12>3.0.CO;2-I
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- Publication type:
- Article
Molecular basis of phenylketonuria in Venezuela: Presence of two novel null mutations.
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- Human Mutation, 1998, v. 11, n. 5, p. 354, doi. 10.1002/(SICI)1098-1004(1998)11:5<354::AID-HUMU2>3.0.CO;2-W
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- Publication type:
- Article
Phenylketonuria in Spanish Gypsies: Prevalence of the IVS10nt546 mutation on haplotype 34.
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- Human Mutation, 1997, v. 9, n. 1, p. 66, doi. 10.1002/(SICI)1098-1004(1997)9:1<66::AID-HUMU13>3.0.CO;2-N
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- Publication type:
- Article
Mutation analysis of phenylketonuria in South Brazil.
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- Human Mutation, 1996, v. 8, n. 3, p. 262, doi. 10.1002/(SICI)1098-1004(1996)8:3<262::AID-HUMU10>3.0.CO;2-0
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- Publication type:
- Article
Expression analysis of mutation P244L, which causes mild hyperphenylalaninemia.
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- Human Mutation, 1995, v. 5, n. 2, p. 188, doi. 10.1002/humu.1380050217
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- Article
Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders.
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- Developmental Medicine & Child Neurology, 2013, v. 55, n. 6, p. 559, doi. 10.1111/dmcn.12116
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- Article
Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding downstream of the 5’ splice site.
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- PLoS Genetics, 2018, v. 14, n. 3, p. 1, doi. 10.1371/journal.pgen.1007360
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- Article
Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia.
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- Human Mutation, 2020, v. 41, n. 7, p. 1329, doi. 10.1002/humu.24026
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- Article
Pharmacological Chaperoning: A Potential Treatment for PMM2-CDG.
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- Human Mutation, 2017, v. 38, n. 2, p. 160, doi. 10.1002/humu.23138
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- Article
The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein.
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- Human Mutation, 2015, v. 36, n. 9, p. 851, doi. 10.1002/humu.22817
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- Article
A Novel Regulatory Defect in the Branched-Chain α-Keto Acid Dehydrogenase Complex Due to a Mutation in the PPM 1 K Gene Causes a Mild Variant Phenotype of Maple Syrup Urine Disease.
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- Human Mutation, 2013, v. 34, n. 2, p. 355, doi. 10.1002/humu.22242
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- Article
Pseudoexon exclusion by antisense therapy in 6-pyruvoyl-tetrahydropterin synthase deficiency.
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- Human Mutation, 2011, v. 32, n. 9, p. 1019, doi. 10.1002/humu.21529
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- Article
Functional and structural analysis of five mutations identified in methylmalonic aciduria cbIB type.
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- Human Mutation, 2010, v. 31, n. 9, p. 1033, doi. 10.1002/humu.21307
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- Article
Genes and Variants Underlying Human Congenital Lactic Acidosis—From Genetics to Personalized Treatment.
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- Journal of Clinical Medicine, 2019, v. 8, n. 11, p. 1811, doi. 10.3390/jcm8111811
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- Article
PAH deficient pathology in humanized c.1066-11G>A phenylketonuria mice.
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- Human Molecular Genetics, 2024, v. 33, n. 12, p. 1074, doi. 10.1093/hmg/ddae051
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- Article
Presence of the Mediterranean PKU mutation IVS10 in Latin America.
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- Human Molecular Genetics, 1993, v. 2, n. 8, p. 1289
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- Article
A new PKU mutation associated with haplotype 12.
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- Human Molecular Genetics, 1992, v. 1, n. 9, p. 765
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- Publication type:
- Article
Endoplasmic Reticulum Stress and Autophagy in Homocystinuria Patients with Remethylation Defects.
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- PLoS ONE, 2016, v. 11, n. 3, p. 1, doi. 10.1371/journal.pone.0150357
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- Publication type:
- Article
Analysis of the effect of tetrahydrobiopterin on PAH gene expression in hepatoma cells
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- FEBS Letters, 2006, v. 580, n. 7, p. 1697, doi. 10.1016/j.febslet.2006.02.005
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- Publication type:
- Article