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At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years

European journal of human genetics : EJHG, 2023-10, Vol.31 (10), p.1108-1116

2023

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High Prevalence of SLC6A8 Deficiency in X-Linked Mental Retardation

American journal of human genetics, 2004-07, Vol.75 (1), p.97-105

2004

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Exocytotic release of creatine in rat brain

Synapse (New York, N.Y.), 2006-08, Vol.60 (2), p.118-123

2006

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An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients

European journal of human genetics : EJHG, 2022-09, Vol.30 (9), p.1029-1035

2022

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Clinical, biochemical, molecular, and histological features of 65 Portuguese patients with mitochondrial disorders

Muscle & nerve, 2017-11, Vol.56 (5), p.868-872

2017

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Syndromes associated with mitochondrial DNA depletion

Italian journal of pediatrics, 2014-04, Vol.40 (1), p.34-34, Article 34

2014

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Trimethylaminuria (fish odor syndrome): genotype characterization among Portuguese patients

Gene, 2013-09, Vol.527 (1), p.366-370

2013

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X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology

Human genetics, 2006-07, Vol.119 (6), p.604-610

2006

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Systematic gene-disease relationship (GDR) curation unveils 61 gene-disease associations and highlights the impact on genetic testing

Genetics in Medicine Open, 2023, Vol.1 (1), p.100833, Article 100833

2023

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Relative frequency of known causes of multiple mtDNA deletions: Two novel POLG mutations

Neuromuscular disorders : NMD, 2011-07, Vol.21 (7), p.483-488

2011

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Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database

European journal of human genetics : EJHG, 2011-01, Vol.19 (1), p.56-63

2011

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Are cerebral creatine deficiency syndromes on the radar screen?

Future neurology, 2006-09, Vol.1 (5), p.637-649

2006

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Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport

Molecular genetics and metabolism, 2004-07, Vol.82 (3), p.214-219

2004

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Clinical Severity of PGK1 Deficiency Due To a Novel p.E120K Substitution Is Exacerbated by Co-inheritance of a Subclinical Translocation t(3;14)(q26.33;q12), Disrupting NUBPL Gene

JIMD Reports, Volume 23, 2015-01, Vol.23, p.55-65

2015

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Novel mutation in the mitochondrial transfer RNACys gene in a child with vomiting and migraine

Mitochondrion, 2013-11, Vol.13 (6), p.933

2013

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“Double-trouble” or digenic disorder in complex I deficiency

Mitochondrion, 2012-09, Vol.12 (5), p.585

2012

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Doenças da comunicação intergenómica: abordagem clínica e laboratorial

Arquivos de Medicina, 2015-02, Vol.29 (1), p.11-19

2015

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The Brazilian health system: history, advances, and challenges

The Lancet (British edition), 2011, Vol.377 (9779), p.1778-1797

2011

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Application of dietary fiber method AOAC 2011.25 in fruit and comparison with AOAC 991.43 method

Food chemistry, 2018-01, Vol.238, p.87-93

2018

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Bioprospecting of probiotics with antimicrobial activities against Salmonella Heidelberg and that produce B-complex vitamins as potential supplements in poultry nutrition

Scientific reports, 2020-04, Vol.10 (1), p.7235-7235, Article 7235

2020

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Composition and properties of Apis mellifera honey: A review

Journal of apicultural research, 2018-01, Vol.57 (1), p.5-37

2018

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Health in Brazil 1: The Brazilian health system: history, advances, and challenges

The Lancet (British edition), 2011-05, Vol.377 (9779), p.1778

2011

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Understanding bacterial resistance to antimicrobial peptides: From the surface to deep inside

Biochimica et biophysica acta, 2015-11, Vol.1848 (11), p.3078-3088

2015

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Mental health outcomes in frontline healthcare workers in Brazil during the COVID-19 epidemic: Results of an online survey in four regions using respondent-driven sampling (RDS)

Comprehensive psychiatry, 2023-10, Vol.126, p.152402-152402, Article 152402

2023

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Comparative study of the physicochemical and palynological characteristics of honey from Melipona subnitida and Apis mellifera

International journal of food science & technology, 2013-08, Vol.48 (8), p.1698-1706

2013

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At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years

High Prevalence of SLC6A8 Deficiency in X-Linked Mental Retardation

Exocytotic release of creatine in rat brain

An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients

Clinical, biochemical, molecular, and histological features of 65 Portuguese patients with mitochondrial disorders

Syndromes associated with mitochondrial DNA depletion

Trimethylaminuria (fish odor syndrome): genotype characterization among Portuguese patients

X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology

Systematic gene-disease relationship (GDR) curation unveils 61 gene-disease associations and highlights the impact on genetic testing

Relative frequency of known causes of multiple mtDNA deletions: Two novel POLG mutations

Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database

Are cerebral creatine deficiency syndromes on the radar screen?

Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport

Clinical Severity of PGK1 Deficiency Due To a Novel p.E120K Substitution Is Exacerbated by Co-inheritance of a Subclinical Translocation t(3;14)(q26.33;q12), Disrupting NUBPL Gene

Novel mutation in the mitochondrial transfer RNACys gene in a child with vomiting and migraine

“Double-trouble” or digenic disorder in complex I deficiency

Doenças da comunicação intergenómica: abordagem clínica e laboratorial

The Brazilian health system: history, advances, and challenges

Application of dietary fiber method AOAC 2011.25 in fruit and comparison with AOAC 991.43 method

Bioprospecting of probiotics with antimicrobial activities against Salmonella Heidelberg and that produce B-complex vitamins as potential supplements in poultry nutrition

Composition and properties of Apis mellifera honey: A review

Health in Brazil 1: The Brazilian health system: history, advances, and challenges

Understanding bacterial resistance to antimicrobial peptides: From the surface to deep inside

Mental health outcomes in frontline healthcare workers in Brazil during the COVID-19 epidemic: Results of an online survey in four regions using respondent-driven sampling (RDS)

Comparative study of the physicochemical and palynological characteristics of honey from Melipona subnitida and Apis mellifera

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