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Biofilms by bacterial human pathogens: Clinical relevance - development, composition and regulation - therapeutical strategies

Microbial cell, 2021-02, Vol.8 (2), p.28-56

2021

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Impact of Gene Repression on Biofilm Formation of Vibrio cholerae

Frontiers in microbiology, 2022-06, Vol.13, p.912297-912297

2022

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Mitochondrial response to the BCKDK-deficiency: Some clues to understand the positive dietary response in this form of autism

Biochimica et biophysica acta, 2016-04, Vol.1862 (4), p.592-600

2016

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Hepatocyte-like cells differentiated from methylmalonic aciduria cblB type induced pluripotent stem cells: A platform for the evaluation of pharmacochaperoning

Biochimica et biophysica acta. Molecular basis of disease, 2022-09, Vol.1868 (9), p.166433-166433, Article 166433

2022

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Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias

Clinical genetics, 2016-09, Vol.90 (3), p.252-257

2016

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molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America

Journal of inherited metabolic disease, 2010-10, Vol.33 (2), p.307-314

2010

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On semivalues on commutative rings

Periodica mathematica Hungarica, 2017-06, Vol.74 (2), p.245-249

2017

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Addendum to the paper “Linearly topologized modules over a discrete valuation ring”

Bollettino della Unione matematica italiana (2008), 2017-12, Vol.10 (4), p.591-594

2017

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Readthrough Strategies for Therapeutic Suppression of Nonsense Mutations in Inherited Metabolic Disease

Molecular syndromology, 2012-11, Vol.3 (5), p.230-236

2012

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Linearly compact modules of continuous mappings

Chaos, solitons and fractals, 2009-12, Vol.42 (5), p.2921-2923

Pombo, Dinamérico P.

2009

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Creatine transporter deficiency in two adult patients with static encephalopathy

Journal of inherited metabolic disease, 2009-12, Vol.32 (Suppl 1), p.91-96

2009

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Dataset reporting BCKDK interference in a BCAA-catabolism restricted environment

Data in brief, 2016-06, Vol.7, p.755-759

2016

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On exact sequences and strict bounded group homomorphisms

Boletim da Sociedade Paranaense de Matemática, 2021-01, Vol.39 (2), p.195-202

Pombo Jr, Dinamérico Pereira

2021

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Propionic acidemia: identification of twenty-four novel mutations in Europe and North America

Molecular genetics and metabolism, 2003, Vol.78 (1), p.59-67

2003

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Wernicke-like encephalopathy during classic maple syrup urine disease decompensation

Journal of inherited metabolic disease, 2012-05, Vol.35 (3), p.413-417

2012

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Propionic acidemia: mutation update and functional and structural effects of the variant alleles

Molecular genetics and metabolism, 2004-09, Vol.83 (1), p.28-37

2004

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The relation between the first and second multipliers of a semivalue

Journal of Innovative Technology and Education, 2020, Vol.7 (1), p.1-5

Pombo Jr, Dinamerico P.

2020

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PP03.2 – 2683: Next generation sequencing allows the identification of NDUFS4 defect in a patient with fatal early Leigh syndrome and deficiencies in pyruvate dehydrogenase and multiple respiratory chain complexes

European journal of paediatric neurology, 2015-05, Vol.19, p.S36-S37

2015

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OP7 – 2635: Does SLC19A3 expression analysis predict thiamine responsiveness?

European journal of paediatric neurology, 2015-05, Vol.19, p.S3-S3

2015

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Functional analysis of PCCB mutations causing propionic acidemia based on expression studies in deficient human skin fibroblasts

Biochimica et biophysica acta, 2003-05, Vol.1638 (1), p.43-49

2003

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Effect of PCCB Gene Mutations on the Heteromeric and Homomeric Assembly of Propionyl-CoA Carboxylase

Molecular genetics and metabolism, 2001-12, Vol.74 (4), p.476-483

2001

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Prenatal diagnosis of propionic acidemia

Prenatal diagnosis, 2004-12, Vol.24 (12), p.962-964

2004

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Linearly topologized modules over a discrete valuation ring

Bollettino della Unione matematica italiana (2008), 2015-03, Vol.7 (4), p.253-278

2015

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The Molecular Basis of 3-Methylcrotonylglycinuria, a Disorder of Leucine Catabolism

American journal of human genetics, 2001-02, Vol.68 (2), p.334-346

2001

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Biofilms by bacterial human pathogens: Clinical relevance - development, composition and regulation - therapeutical strategies

Impact of Gene Repression on Biofilm Formation of Vibrio cholerae

Mitochondrial response to the BCKDK-deficiency: Some clues to understand the positive dietary response in this form of autism

Hepatocyte-like cells differentiated from methylmalonic aciduria cblB type induced pluripotent stem cells: A platform for the evaluation of pharmacochaperoning

Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias

molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America

On semivalues on commutative rings

Addendum to the paper “Linearly topologized modules over a discrete valuation ring”

Readthrough Strategies for Therapeutic Suppression of Nonsense Mutations in Inherited Metabolic Disease

Linearly compact modules of continuous mappings

Creatine transporter deficiency in two adult patients with static encephalopathy

Dataset reporting BCKDK interference in a BCAA-catabolism restricted environment

On exact sequences and strict bounded group homomorphisms

Propionic acidemia: identification of twenty-four novel mutations in Europe and North America

Wernicke-like encephalopathy during classic maple syrup urine disease decompensation

Propionic acidemia: mutation update and functional and structural effects of the variant alleles

The relation between the first and second multipliers of a semivalue

PP03.2 – 2683: Next generation sequencing allows the identification of NDUFS4 defect in a patient with fatal early Leigh syndrome and deficiencies in pyruvate dehydrogenase and multiple respiratory chain complexes

OP7 – 2635: Does SLC19A3 expression analysis predict thiamine responsiveness?

Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors

Functional analysis of PCCB mutations causing propionic acidemia based on expression studies in deficient human skin fibroblasts

Effect of PCCB Gene Mutations on the Heteromeric and Homomeric Assembly of Propionyl-CoA Carboxylase

Prenatal diagnosis of propionic acidemia

Linearly topologized modules over a discrete valuation ring

The Molecular Basis of 3-Methylcrotonylglycinuria, a Disorder of Leucine Catabolism

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