VIAF

Virtual International Authority File

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Leader 00000nz a2200037n 45 0
001 WKP|Q50673886 (VIAF cluster) (Authority/Source Record)
003 WKP
005 20241221010718.0
008 241221nneanz||abbn n and d
035 ‎‡a (WKP)Q50673886‏
024 ‎‡a 0000-0002-8881-9197‏ ‎‡2 orcid‏
024 ‎‡a 7102194200‏ ‎‡2 scopus‏
035 ‎‡a (OCoLC)Q50673886‏
100 0 ‎‡a Sandra Alves‏ ‎‡c researcher (ORCID 0000-0002-8881-9197)‏ ‎‡9 en‏
375 ‎‡a 2‏ ‎‡2 iso5218‏
400 0 ‎‡a Sandra Alves‏ ‎‡c wetenschapper‏ ‎‡9 nl‏
400 0 ‎‡a Sandra Alves‏ ‎‡c hulumtuese‏ ‎‡9 sq‏
670 ‎‡a Author's A shortcut to the lysosome: the mannose-6-phosphate-independent pathway.‏
670 ‎‡a Author's Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants‏
670 ‎‡a Author's Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients‏
670 ‎‡a Author's Data in support of a functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II.‏
670 ‎‡a Author's Do the distribution patterns of polymorphisms at the thiopurine S-methyltransferase locus in sub-Saharan populations need revision? Hints from Cabinda and Mozambique‏
670 ‎‡a Author's Evolution of a VNTR located within the promoter region of the thiopurine methyltransferase gene: inferences from population and sequence data‏
670 ‎‡a Author's Frequency of the thiopurine S-methyltransferase alleles in the ancient genetic population isolate of Sardinia.‏
670 ‎‡a Author's From bedside to cell biology: a century of history on lysosomal dysfunction.‏
670 ‎‡a Author's From rare to common and back again: 60years of lysosomal dysfunction.‏
670 ‎‡a Author's Functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II.‏
670 ‎‡a Author's Glycosaminoglycan storage disorders: a review‏
670 ‎‡a Author's I Cell Disease (Mucolipidosis II Alpha/Beta): From Screening to Molecular Diagnosis‏
670 ‎‡a Author's Influence of the variable number of tandem repeats located in the promoter region of the thiopurine methyltransferase gene on enzymatic activity‏
670 ‎‡a Author's Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders‏
670 ‎‡a Author's Lysosomal multienzymatic complex-related diseases: a genetic study among Portuguese patients‏
670 ‎‡a Author's Lysosomal Storage Disease-Associated Neuropathy: Targeting Stable Nucleic Acid Lipid Particle (SNALP)-Formulated siRNAs to the Brain as a Therapeutic Approach‏
670 ‎‡a Author's Molecular analysis of mucopolysaccharidosis type IIIB in Portugal: evidence of a single origin for a common mutation‏
670 ‎‡a Author's Molecular analysis of mucopolysaccharidosis type IIIB in Portugal: evidence of a single origin for a common mutation (R234C) in the Iberian Peninsula‏
670 ‎‡a Author's Molecular characterization of Portuguese patients with mucopolysaccharidosis type II shows evidence that the IDS gene is prone to splicing mutations‏
670 ‎‡a Author's Mucolipidosis II-related mutations inhibit the exit from the endoplasmic reticulum and proteolytic cleavage of GlcNAc-1-phosphotransferase precursor protein (GNPTAB)‏
670 ‎‡a Author's Mucolipidosis type II α/β with a homozygous missense mutation in the GNPTAB gene.‏
670 ‎‡a Author's NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann-Pick type C patient‏
670 ‎‡a Author's Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity.‏
670 ‎‡a Author's Outcome in acute lymphoblastic leukemia: Influence of thiopurine methyltransferase genetic polymorphisms‏
670 ‎‡a Author's Prenatal skeletal dysplasia phenotype in severe MLII Alpha /beta with novel GNPTAB mutation‏
670 ‎‡a Author's Screening of thiopurine S-methyltransferase mutations by horizontal conformation-sensitive gel electrophoresis‏
670 ‎‡a Author's Solving a case of allelic dropout in the GNPTAB gene: implications in the molecular diagnosis of mucolipidosis type III Alpha /beta.‏
670 ‎‡a Author's The GSTM1 and GSTT1 genetic polymorphisms and susceptibility to acute lymphoblastic leukemia in children from north Portugal‏
670 ‎‡a Author's The MTHFR C677T and A1298C polymorphisms and susceptibility to childhood acute lymphoblastic leukemia in Portugal‏
670 ‎‡a Author's Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations‏
670 ‎‡a Author's Tracing the origin of the most common thiopurine methyltransferase (TPMT) variants: preliminary data from the patterns of haplotypic association with two CA repeats.‏
670 ‎‡a Author's Update of the spectrum of mucopolysaccharidoses type III in Tunisia: identification of three novel mutations and in silico structural analysis of the missense mutations‏
909 ‎‡a (orcid) 0000000288819197‏ ‎‡9 1‏
909 ‎‡a (scopus) 7102194200‏ ‎‡9 1‏
919 ‎‡a influenceofthevariablenumberoftandemrepeatslocatedinthepromoterregionofthethiopurinemethyltransferasegeneonenzymaticactivity‏ ‎‡A Influence of the variable number of tandem repeats located in the promoter region of the thiopurine methyltransferase gene on enzymatic activity‏ ‎‡9 1‏
919 ‎‡a celldiseasemucolipidosis2 Alpha betafromscreeningtomoleculardiagnosis‏ ‎‡A I Cell Disease (Mucolipidosis II Alpha/Beta): From Screening to Molecular Diagnosis‏ ‎‡9 1‏
919 ‎‡a glycosaminoglycanstoragedisordersareview‏ ‎‡A Glycosaminoglycan storage disorders: a review‏ ‎‡9 1‏
919 ‎‡a functionalanalysisofsplicingmutationsintheidsgeneandtheuseofantisenseoligonucleotidestoexploitanalternativetherapyformps2‏ ‎‡A Functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II.‏ ‎‡9 1‏
919 ‎‡a fromraretocommonandbackagain60yearsoflysosomaldysfunction‏ ‎‡A From rare to common and back again: 60years of lysosomal dysfunction.‏ ‎‡9 1‏
919 ‎‡a updateofthespectrumofmucopolysaccharidosestype3intunisiaidentificationof3novelmutationsandinsilicostructuralanalysisofthemissensemutations‏ ‎‡A Update of the spectrum of mucopolysaccharidoses type III in Tunisia: identification of three novel mutations and in silico structural analysis of the missense mutations‏ ‎‡9 1‏
919 ‎‡a tracingtheoriginofthemostcommonthiopurinemethyltransferasetpmtvariantspreliminarydatafromthepatternsofhaplotypicassociationwith2carepeats‏ ‎‡A Tracing the origin of the most common thiopurine methyltransferase (TPMT) variants: preliminary data from the patterns of haplotypic association with two CA repeats.‏ ‎‡9 1‏
919 ‎‡a therapeuticstrategiesbasedonmodifiedu1snrnasandchaperonesforsanfilippo100splicingmutations‏ ‎‡A Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations‏ ‎‡9 1‏
919 ‎‡a mthfrc677tanda1298cpolymorphismsandsusceptibilitytochildhoodacutelymphoblasticleukemiainportugal‏ ‎‡A The MTHFR C677T and A1298C polymorphisms and susceptibility to childhood acute lymphoblastic leukemia in Portugal‏ ‎‡9 1‏
919 ‎‡a gstm1andgstt1geneticpolymorphismsandsusceptibilitytoacutelymphoblasticleukemiainchildrenfromnorthportugal‏ ‎‡A The GSTM1 and GSTT1 genetic polymorphisms and susceptibility to acute lymphoblastic leukemia in children from north Portugal‏ ‎‡9 1‏
919 ‎‡a solvingacaseofallelicdropoutinthegnptabgeneimplicationsinthemoleculardiagnosisofmucolipidosistype3 Alpha beta‏ ‎‡A Solving a case of allelic dropout in the GNPTAB gene: implications in the molecular diagnosis of mucolipidosis type III Alpha /beta.‏ ‎‡9 1‏
919 ‎‡a screeningofthiopurinesmethyltransferasemutationsbyhorizontalconformationsensitivegelelectrophoresis‏ ‎‡A Screening of thiopurine S-methyltransferase mutations by horizontal conformation-sensitive gel electrophoresis‏ ‎‡9 1‏
919 ‎‡a prenatalskeletaldysplasiaphenotypeinsevere1052 Alpha betawithnovelgnptabmutation‏ ‎‡A Prenatal skeletal dysplasia phenotype in severe MLII Alpha /beta with novel GNPTAB mutation‏ ‎‡9 1‏
919 ‎‡a outcomeinacutelymphoblasticleukemiainfluenceofthiopurinemethyltransferasegeneticpolymorphisms‏ ‎‡A Outcome in acute lymphoblastic leukemia: Influence of thiopurine methyltransferase genetic polymorphisms‏ ‎‡9 1‏
919 ‎‡a originandspreadofacommondeletioncausingmucolipidosistype2insightsfrompatternsofhaplotypicdiversity‏ ‎‡A Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity.‏ ‎‡9 1‏
919 ‎‡a npc1silentvariantinducesskippingofexon11pv562vandunfoldedproteinresponsewasfoundinaspecificniemannpicktype100patient‏ ‎‡A NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann-Pick type C patient‏ ‎‡9 1‏
919 ‎‡a mucolipidosistype2αβwithahomozygousmissensemutationinthegnptabgene‏ ‎‡A Mucolipidosis type II α/β with a homozygous missense mutation in the GNPTAB gene.‏ ‎‡9 1‏
919 ‎‡a mucolipidosis2relatedmutationsinhibittheexitfromtheendoplasmicreticulumandproteolyticcleavageofglcnac1phosphotransferaseprecursorproteingnptab‏ ‎‡A Mucolipidosis II-related mutations inhibit the exit from the endoplasmic reticulum and proteolytic cleavage of GlcNAc-1-phosphotransferase precursor protein (GNPTAB)‏ ‎‡9 1‏
919 ‎‡a molecularcharacterizationofportuguesepatientswithmucopolysaccharidosistype2showsevidencethattheidsgeneispronetosplicingmutations‏ ‎‡A Molecular characterization of Portuguese patients with mucopolysaccharidosis type II shows evidence that the IDS gene is prone to splicing mutations‏ ‎‡9 1‏
919 ‎‡a molecularanalysisofmucopolysaccharidosistypeiiibinportugalevidenceofasingleoriginforacommonmutationr234cintheiberianpeninsula‏ ‎‡A Molecular analysis of mucopolysaccharidosis type IIIB in Portugal: evidence of a single origin for a common mutation (R234C) in the Iberian Peninsula‏ ‎‡9 1‏
919 ‎‡a shortcuttothelysosomethemannose6phosphateindependentpathway‏ ‎‡A A shortcut to the lysosome: the mannose-6-phosphate-independent pathway.‏ ‎‡9 1‏
919 ‎‡a assessinglysosomaldisordersinthengseraidentificationofnovelrarevariants‏ ‎‡A Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants‏ ‎‡9 1‏
919 ‎‡a clinicalbiochemicalandmolecularcharacterizationofcystinuriainacohortof12patients‏ ‎‡A Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients‏ ‎‡9 1‏
919 ‎‡a datainsupportofafunctionalanalysisofsplicingmutationsintheidsgeneandtheuseofantisenseoligonucleotidestoexploitanalternativetherapyformps2‏ ‎‡A Data in support of a functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II.‏ ‎‡9 1‏
919 ‎‡a dothedistributionpatternsofpolymorphismsatthethiopurinesmethyltransferaselocusinsubsaharanpopulationsneedrevisionhintsfromcabindaandmozambique‏ ‎‡A Do the distribution patterns of polymorphisms at the thiopurine S-methyltransferase locus in sub-Saharan populations need revision? Hints from Cabinda and Mozambique‏ ‎‡9 1‏
919 ‎‡a evolutionofavntrlocatedwithinthepromoterregionofthethiopurinemethyltransferasegeneinferencesfrompopulationandsequencedata‏ ‎‡A Evolution of a VNTR located within the promoter region of the thiopurine methyltransferase gene: inferences from population and sequence data‏ ‎‡9 1‏
919 ‎‡a frequencyofthethiopurinesmethyltransferaseallelesintheancientgeneticpopulationisolateofsardinia‏ ‎‡A Frequency of the thiopurine S-methyltransferase alleles in the ancient genetic population isolate of Sardinia.‏ ‎‡9 1‏
919 ‎‡a frombedsidetocellbiologyacenturyofhistoryonlysosomaldysfunction‏ ‎‡A From bedside to cell biology: a century of history on lysosomal dysfunction.‏ ‎‡9 1‏
919 ‎‡a molecularanalysisofmucopolysaccharidosistypeiiibinportugalevidenceofasingleoriginforacommonmutation‏ ‎‡A Molecular analysis of mucopolysaccharidosis type IIIB in Portugal: evidence of a single origin for a common mutation‏ ‎‡9 1‏
919 ‎‡a lysosomalstoragediseaseassociatedneuropathytargetingstablenucleicacidlipidparticlesnalpformulatedsirnastothebrainasatherapeuticapproach‏ ‎‡A Lysosomal Storage Disease-Associated Neuropathy: Targeting Stable Nucleic Acid Lipid Particle (SNALP)-Formulated siRNAs to the Brain as a Therapeutic Approach‏ ‎‡9 1‏
919 ‎‡a lysosomalmultienzymaticcomplexrelateddiseasesageneticstudyamongportuguesepatients‏ ‎‡A Lysosomal multienzymatic complex-related diseases: a genetic study among Portuguese patients‏ ‎‡9 1‏
919 ‎‡a lessismoresubstratereductiontherapyforlysosomalstoragedisorders‏ ‎‡A Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders‏ ‎‡9 1‏
946 ‎‡a a‏ ‎‡9 1‏
996 ‎‡2 ISNI|0000000431001882‏
996 ‎‡2 BNF|14074360‏
996 ‎‡2 BIBSYS|90312993‏
996 ‎‡2 PTBNP|1027490‏
996 ‎‡2 ISNI|000000041952527X‏
996 ‎‡2 ISNI|0000000069794137‏
996 ‎‡2 ISNI|0000000069323669‏
996 ‎‡2 PTBNP|1445552‏
996 ‎‡2 LC|n 2019251402‏
996 ‎‡2 PTBNP|1741324‏
996 ‎‡2 LC|n 2022250809‏
996 ‎‡2 BIBSYS|90516174‏
996 ‎‡2 PTBNP|1052455‏
996 ‎‡2 PTBNP|1506360‏
996 ‎‡2 PTBNP|797768‏
996 ‎‡2 ISNI|000000043037701X‏
996 ‎‡2 PTBNP|1196578‏
996 ‎‡2 RERO|A005692914‏
996 ‎‡2 DNB|1162358432‏
996 ‎‡2 BLBNB|000313175‏
996 ‎‡2 ISNI|0000000070926563‏
996 ‎‡2 BLBNB|001029400‏
996 ‎‡2 PTBNP|1820285‏
996 ‎‡2 LC|nb 99068177‏
996 ‎‡2 NII|DA02713333‏
996 ‎‡2 CAOONL|ncf11379707‏
996 ‎‡2 PTBNP|1252857‏
996 ‎‡2 PTBNP|1766709‏
996 ‎‡2 BLBNB|000560138‏
996 ‎‡2 ISNI|0000000070406648‏
996 ‎‡2 ISNI|0000000069788730‏
996 ‎‡2 LC|n 2014205216‏
996 ‎‡2 PTBNP|1619679‏
996 ‎‡2 PTBNP|1907944‏
996 ‎‡2 BLBNB|000311763‏
996 ‎‡2 PTBNP|1394144‏
996 ‎‡2 ISNI|0000000394629215‏
996 ‎‡2 PTBNP|1591043‏
996 ‎‡2 BLBNB|001016542‏
996 ‎‡2 PTBNP|944202‏
996 ‎‡2 LC|no2018124538‏
996 ‎‡2 ISNI|0000000068713868‏
996 ‎‡2 ISNI|0000000068274164‏
996 ‎‡2 RERO|A025243533‏
996 ‎‡2 DNB|1052226795‏
996 ‎‡2 BLBNB|000597150‏
996 ‎‡2 PTBNP|1423000‏
996 ‎‡2 PTBNP|251440‏
996 ‎‡2 PTBNP|1273108‏
996 ‎‡2 NTA|154649597‏
996 ‎‡2 SUDOC|069729654‏
996 ‎‡2 PTBNP|1906432‏
996 ‎‡2 ISNI|000000038397008X‏
996 ‎‡2 SUDOC|197027172‏
996 ‎‡2 PTBNP|3668‏
996 ‎‡2 ISNI|0000000069818661‏
996 ‎‡2 PTBNP|1371988‏
996 ‎‡2 PTBNP|2892‏
996 ‎‡2 NTA|364167300‏
996 ‎‡2 ISNI|0000000068890821‏
996 ‎‡2 PTBNP|1442896‏
996 ‎‡2 ISNI|0000000069519303‏
996 ‎‡2 PTBNP|1689834‏
996 ‎‡2 PTBNP|1195520‏
996 ‎‡2 PTBNP|246335‏
996 ‎‡2 ISNI|0000000070715846‏
996 ‎‡2 PTBNP|217149‏
996 ‎‡2 PTBNP|1607693‏
996 ‎‡2 PTBNP|1225437‏
996 ‎‡2 BLBNB|000361856‏
996 ‎‡2 PTBNP|233731‏
996 ‎‡2 ISNI|0000000070134507‏
996 ‎‡2 ISNI|0000000070508441‏
996 ‎‡2 NKC|jcu2013741463‏
996 ‎‡2 NTA|152523545‏
997 ‎‡a 0 0 lived 0 0‏ ‎‡9 1‏