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Oxidative stress and apoptosis in homocystinuria patients with genetic remethylation defects.
- Published in:
- Journal of Cellular Biochemistry, 2013, v. 114, n. 1, p. 183, doi. 10.1002/jcb.24316
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- Publication type:
- 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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- Publication type:
- Article
Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III.
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- Human Genetics, 2000, v. 106, n. 6, p. 654, doi. 10.1007/s004390000307
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- Publication type:
- Article
Antimicrobial, Antioxidant, and Immunomodulatory Properties of Essential Oils: A Systematic Review.
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- Nutrients, 2019, v. 11, n. 11, p. 2786, doi. 10.3390/nu11112786
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- Publication type:
- Article
Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant.
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- Neurogenetics, 2011, v. 12, n. 3, p. 183, doi. 10.1007/s10048-011-0279-4
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- Publication type:
- Article
New splicing mutations in propionic acidemia.
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- Journal of Human Genetics, 2006, v. 51, n. 11, p. 992, doi. 10.1007/s10038-006-0068-3
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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- Article
Metabolic Rewiring and Altered Glial Differentiation in an iPSC-Derived Astrocyte Model Derived from a Nonketotic Hyperglycinemia Patient.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 5, p. 2814, doi. 10.3390/ijms25052814
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- Publication type:
- Article
Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 21, p. 12850, doi. 10.3390/ijms232112850
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- Publication type:
- Article
Expression of an Aspergillus niger Glucose Oxidase in Saccharomyces cerevisiaeand Its Use to Optimize Fructo-oligosaccharides Synthesis.
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- Biotechnology Progress, 2006, v. 22, n. 4, p. 1096, doi. 10.1021/bp060076k
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- Publication type:
- Article
Biotin Transport in Primary Culture of Astrocytes: Effect of Biotin Deficiency.
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- Journal of Neurochemistry, 1992, v. 58, n. 4, p. 1460, doi. 10.1111/j.1471-4159.1992.tb11364.x
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- Publication type:
- Article
The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1.
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- Clinical Genetics, 2022, v. 102, n. 1, p. 40, doi. 10.1111/cge.14138
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- Publication type:
- Article
Revisiting MSUD in Portuguese Gypsies: Evidence for a Founder Mutation and for a Mutational Hotspot within the BCKDHA Gene.
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- Annals of Human Genetics, 2009, v. 73, n. 3, p. 298, doi. 10.1111/j.1469-1809.2009.00518.x
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- Publication type:
- Article
Newborn screening for propionic, methylmalonic acidemia and vitamin B12 deficiency. Analysis of 588,793 newborns.
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- Journal of Pediatric Endocrinology & Metabolism, 2022, v. 35, n. 10, p. 1223, doi. 10.1515/jpem-2022-0340
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- Publication type:
- Article
The Missense p.S231F Phenylalanine Hydroxylase Gene Mutation Causes Complete Loss of Enzymatic Activity In Vitro.
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- Protein Journal, 2009, v. 28, n. 6, p. 294, doi. 10.1007/s10930-009-9194-z
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- Publication type:
- Article
THE OFFSPRING OF A PHENYLKETONURIC COUPLE.
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- Journal of Intellectual Disability Research, 1980, v. 24, n. 2, p. 119, doi. 10.1111/j.1365-2788.1980.tb00065.x
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- Publication type:
- Article
FREE AMINO ACIDS IN THE TISSUES OF RATS WITH EXPERIMENTALLY INDUCED PHENYLKETONURIA.
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- Journal of Intellectual Disability Research, 1977, v. 21, n. 2, p. 95, doi. 10.1111/j.1365-2788.1977.tb00029.x
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- Publication type:
- Article
Pathogenic variants of the coenzyme A biosynthesis‐associated enzyme phosphopantothenoylcysteine decarboxylase cause autosomal‐recessive dilated cardiomyopathy.
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- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 2, p. 261, doi. 10.1002/jimd.12584
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- Publication type:
- Article
Functional characterization of novel genotypes and cellular oxidative stress studies in propionic acidemia.
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 731, doi. 10.1007/s10545-012-9545-3
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- Publication type:
- Article
A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene.
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 3, p. 535, doi. 10.1007/s10545-012-9525-7
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- Publication type:
- Article
Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG).
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 4, p. 929, doi. 10.1007/s10545-011-9328-2
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- Publication type:
- Article
Acute fatty liver of pregnancy and neonatal long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency.
- Published in:
- 2009
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- Publication type:
- Report
Hyperammonaemia as a cause of psychosis in an adolescent.
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- 2003
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- Publication type:
- journal article
DPAGT1-CDG: Functional analysis of disease-causing pathogenic mutations and role of endoplasmic reticulum stress.
- Published in:
- 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
The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 307, doi. 10.1007/s10545-010-9116-4
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- Publication type:
- Article
Present and future of antisense therapy for splicing modulation in inherited metabolic disease.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 4, p. 397, doi. 10.1007/s10545-010-9135-1
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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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- Publication type:
- 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
Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria.
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- Human Mutation, 2009, v. 30, n. 3, p. E520, doi. 10.1002/humu.20966
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- Publication type:
- Article
Mutational spectrum of maple syrup urine disease in Spain.
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- Human Mutation, 2006, v. 27, n. 7, p. 715, doi. 10.1002/humu.9428
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- Publication type:
- Article
High prevalence of CBS p.T191M mutation in homocystinuric patients from Colombia.
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- Human Mutation, 2006, v. 27, n. 3, p. 296, doi. 10.1002/humu.9416
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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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- Publication type:
- Article
Genetic diversity within the R408W phenylketonuria mutation lineages in Europe (For the PKU Special Issue).
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- Human Mutation, 2003, v. 21, n. 4, p. 387, doi. 10.1002/humu.10195
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- Publication type:
- 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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- Publication type:
- Article
Phenylketonuria: Genotype–phenotype correlations based on expression analysis of structural and functional mutations in PAHFor the PKU special issue.
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 370, doi. 10.1002/humu.10198
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- Publication type:
- Article
Genetic diversity within the R408W phenylketonuria mutation lineages in EuropeFor the PKU Special Issue.
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 387, doi. 10.1002/humu.10195
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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
New frequent mutation in the PCCB gene in Spanish propionic acidemia patients.
- Published in:
- Human Mutation, 1998, v. 11, p. S234, doi. 10.1002/humu.1380110175
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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.
- Published in:
- Human Mutation, 1995, v. 5, n. 2, p. 188, doi. 10.1002/humu.1380050217
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- Publication type:
- Article
Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 2, p. 146, doi. 10.1002/jmd2.12265
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- Publication type:
- Article
A new case of creatine transporter deficiency associated with mild clinical phenotype and a novel mutation in the SLC6A8 gene.
- Published in:
- 2010
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- Publication type:
- Letter
A functional platform for the selection of pathogenic variants of PMM2 amenable to rescue via the use of pharmacological chaperones.
- Published in:
- Human Mutation, 2022, v. 43, n. 10, p. 1430, doi. 10.1002/humu.24431
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- Publication type:
- Article
Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia.
- Published in:
- Human Mutation, 2020, v. 41, n. 7, p. 1329, doi. 10.1002/humu.24026
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- Publication type:
- Article