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NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann‐Pick type C patient

Molecular genetics & genomic medicine, 2020-11, Vol.8 (11), p.e1451-n/a

2020

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Prevalence of lysosomal storage diseases in Portugal

European journal of human genetics : EJHG, 2004-02, Vol.12 (2), p.87-92

2004

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D-Bifunctional Protein Deficiency: A Cause of Neonatal Onset Seizures and Hypotonia

Pediatric neurology, 2015-05, Vol.52 (5), p.539-543

2015

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Glycosaminoglycan Storage Disorders: A Review

Biochemistry Research International, 2012-01, Vol.2012 (2012), p.299-314

2012

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Amino Acid Profiles in the Biological Fluids and Tumor Tissue of CRC Patients

Cancers, 2023-12, Vol.16 (1), p.69

2023

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Mineral supplement with pre- and probiotic improves respiratory immune status in yearling racing Thoroughbred horses: preliminary results

Ciência rural, 2018-01, Vol.48 (5)

2018

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RUNASUR: estudio de caso de la propuesta de Evo Morales de regionalismo plurinacional

Aportes para la integración latinoamericana, 2022-12 (47), p.45

2022

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Screening for Pompe disease in a Portuguese high risk population

Neuromuscular disorders : NMD, 2017-08, Vol.27 (8), p.777-781

2017

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Recursos didáticos inclusivos para ensino de química/ciências e as tramas nas produções acadêmicas: uma revisão de literatura

Actio (Curitiba), 2022-11, Vol.7 (3), p.1

2022

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Doença de Pompe Juvenil: Estudo Retrospetivo de Casuística Clínica

Acta médica portuguesa, 2013-08, Vol.26 (4), p.361-370

2013

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Solving a case of allelic dropout in the GNPTAB gene: implications in the molecular diagnosis of mucolipidosis type III alpha/beta

Journal of Pediatric Endocrinology and Metabolism, 2016-10, Vol.29 (10), p.1225

2016

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Impact of Structural GLA Protein Changes on Peripheral GLA Activity and Substrate Accumulation in Fabry Disease Patients

Endocrine, metabolic & immune disorders drug targets, 2023-09, Vol.23

2023

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Genotype‐phenotype correlations and BH4 estimated responsiveness in patients with phenylketonuria from Rio de Janeiro, Southeast Brazil

Molecular genetics & genomic medicine, 2019-05, Vol.7 (5), p.e610-n/a

2019

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Mutation analysis of the PAH gene in phenylketonuria patients from Rio de Janeiro, Southeast Brazil

Molecular genetics & genomic medicine, 2018-07, Vol.6 (4), p.575-591

2018

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Formação e desenvolvimento profissional de professoras da Educação Básica

Ensino em re-vista, 2017-04, p.431-450

2017

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Evidence for a link between sphingolipid metabolism and expression of CD1d and MHC‐class II: monocytes from Gaucher disease patients as a model

British journal of haematology, 2005-06, Vol.129 (5), p.667-676

2005

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Prevalence of lysosomal storage diseases in Portugal

European journal of human genetics : EJHG, 2004-02, Vol.12 (2), p.87-92

2004

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Infantile Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid Levels

JIMD Reports, Volume 26, 2016-01, Vol.26, p.53-60

2016

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Adolescent-onset Krabbe disease with an initial diagnosis of multiple sclerosis and a novel mutation

BMJ case reports, 2015-09, Vol.2015, p.bcr2015210625

2015

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Genotype-phenotype correlations and BH 4 estimated responsiveness in patients with phenylketonuria from Rio de Janeiro, Southeast Brazil

Molecular genetics & genomic medicine, 2019-05, Vol.7 (5), p.e610

2019

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Considerações sobre a forma aguda da isosporose humana. Apresentação de três casos

Revista do Instituto Adolfo Lutz, 2022-02, Vol.39 (2), p.179-186

2022

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Mucolipidosis type II α/β with a homozygous missense mutation in the GNPTAB gene

American journal of medical genetics. Part A, 2012-05, Vol.158A (5), p.1225-1228

2012

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Orientações do enfermeiro aos idosos com diabetes mellitus: prevenindo lesões

Revista de enfermagem UFPE on line, 2019-07, Vol.13

2019

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Há critérios para a inclusão de cães de Intervenções Assistidas por Animais em ambiente universitário?

Revista Acadêmica Ciência Animal, 2021-04, Vol.19, p.1

2021

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A Política Externa Paraguaia e Boliviana Frente às lideranças do Brasil e da Venezuela na América do Sul | Paraguayan and Bolivian Foreign Policy in front of the leadership of Brazil and Venezuela in South America

Mural Internacional, 2021-11, Vol.12, p.e60235

2021

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NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann‐Pick type C patient

Prevalence of lysosomal storage diseases in Portugal

D-Bifunctional Protein Deficiency: A Cause of Neonatal Onset Seizures and Hypotonia

Glycosaminoglycan Storage Disorders: A Review

Amino Acid Profiles in the Biological Fluids and Tumor Tissue of CRC Patients

Mineral supplement with pre- and probiotic improves respiratory immune status in yearling racing Thoroughbred horses: preliminary results

RUNASUR: estudio de caso de la propuesta de Evo Morales de regionalismo plurinacional

Screening for Pompe disease in a Portuguese high risk population

Recursos didáticos inclusivos para ensino de química/ciências e as tramas nas produções acadêmicas: uma revisão de literatura

Doença de Pompe Juvenil: Estudo Retrospetivo de Casuística Clínica

Solving a case of allelic dropout in the GNPTAB gene: implications in the molecular diagnosis of mucolipidosis type III alpha/beta

Impact of Structural GLA Protein Changes on Peripheral GLA Activity and Substrate Accumulation in Fabry Disease Patients

Genotype‐phenotype correlations and BH4 estimated responsiveness in patients with phenylketonuria from Rio de Janeiro, Southeast Brazil

Mutation analysis of the PAH gene in phenylketonuria patients from Rio de Janeiro, Southeast Brazil

Formação e desenvolvimento profissional de professoras da Educação Básica

Evidence for a link between sphingolipid metabolism and expression of CD1d and MHC‐class II: monocytes from Gaucher disease patients as a model

Prevalence of lysosomal storage diseases in Portugal

Infantile Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid Levels

Adolescent-onset Krabbe disease with an initial diagnosis of multiple sclerosis and a novel mutation

Genotype-phenotype correlations and BH 4 estimated responsiveness in patients with phenylketonuria from Rio de Janeiro, Southeast Brazil

Considerações sobre a forma aguda da isosporose humana. Apresentação de três casos

Mucolipidosis type II α/β with a homozygous missense mutation in the GNPTAB gene

Orientações do enfermeiro aos idosos com diabetes mellitus: prevenindo lesões

Há critérios para a inclusão de cães de Intervenções Assistidas por Animais em ambiente universitário?

A Política Externa Paraguaia e Boliviana Frente às lideranças do Brasil e da Venezuela na América do Sul | Paraguayan and Bolivian Foreign Policy in front of the leadership of Brazil and Venezuela in South America

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