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Lista de obras de Ida Vanessa D Schwartz

A clinical study of 77 patients with mucopolysaccharidosis type II

artículo científico publicado en 2007

A convenient approach to facilitate monitoring Gaucher disease progression and therapeutic response.

artículo científico publicado en 2017

A de novo or germline mutation in a family with Mucolipidosis III gamma: Implications for molecular diagnosis and genetic counseling.

scientific article published on 27 February 2014

A patient presenting a 22q13 deletion associated with an apparently balanced translocation t(16;22): An illustrative case in the investigation of patients with low ARSA activity

artículo científico publicado en 2012

A triple-blinded crossover study to evaluate the short-term safety of sweet manioc starch for the treatment of glycogen storage disease type Ia

artículo científico publicado en 2021

ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

artículo científico publicado en 2016

Access to treatment for phenylketonuria by judicial means in Rio Grande do Sul, Brazil

article

Acromegaloid facial appearance and hypertrichosis: a case suggesting autosomal recessive inheritance

scientific article published on 01 January 2004

Acute exercise in treated phenylketonuria patients: Physical activity and biochemical response

artículo científico publicado en 2015

Adherence to Treatment of Phenylketonuria

article published in 2015

Analyses of disease-related GNPTAB mutations define a novel GlcNAc-1-phosphotransferase interaction domain and an alternative site-1 protease cleavage site

artículo científico publicado en 2015

Analysis of body composition and nutritional status in Brazilian phenylketonuria patients.

artículo científico publicado en 2016

Are MPS II heterozygotes actually asymptomatic? A study based on clinical and biochemical data, X-inactivation analysis and imaging evaluations

artículo científico publicado en 2011

Assessment of Basal Metabolic Rate and Nutritional Status in Patients with Gaucher Disease Type III.

artículo científico publicado en 2013

Assessment of cellular cobalamin metabolism in Gaucher disease

artículo científico publicado en 2020

Assessment of quality of life in Gaucher disease: A methodological approach

scientific article published on 21 November 2020

Attention-deficit hyperactivity disorder in Brazilian patients with phenylketonuria

article

Atypical macrocephaly-cutis marmorata telangiectatica congenita with retinoblastoma

artículo científico publicado en 2002

BRCA1 and BRCA2 mutational profile and prevalence in hereditary breast and ovarian cancer (HBOC) probands from Southern Brazil: Are international testing criteria appropriate for this specific population?

artículo científico publicado en 2017

Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients

artículo científico publicado en 2017

Body composition in patients with classical homocystinuria: body mass relates to homocysteine and choline metabolism.

artículo científico publicado en 2014

Brain magnetic resonance imaging findings in patients with mucopolysaccharidosis VI.

artículo científico publicado en 2012

Brain-derived neurotrophic factor expression increases after enzyme replacement therapy in Gaucher disease

artículo científico publicado en 2014

Breastfeeding in Gaucher Disease: Is Enzyme Replacement Therapy Safe?

artículo científico publicado en 2014

Breastfeeding in patients with Gaucher disease: Is taliglucerase alfa safe?

CBS mutations are good predictors for B6-responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients.

artículo científico publicado en 2018

CNS involvement in Fabry disease: clinical and imaging studies before and after 12 months of enzyme replacement therapy

artículo científico publicado en 2004

Cardiovascular findings in classic homocystinuria

artículo científico publicado en 2020

Characteristics of 26 patients with type 3 Gaucher disease: A descriptive analysis from the Gaucher Outcome Survey

artículo científico publicado en 2017

Characterization of the 3'UTR of the BTD gene and identification of regulatory elements and microRNAs

artículo científico publicado en 2022

Chitotriosidase on treatment-naïve patients with Gaucher disease: A genotype vs phenotype study

scientific article published on 26 January 2019

Classical homocystinuria: A common inborn error of metabolism? An epidemiological study based on genetic databases

scientific article published on 30 March 2020

Clinical Characterization of Mucolipidoses II and III: A Multicenter Study

scientific article published on 24 September 2019

Clinical and biochemical studies in mucopolysaccharidosis type II carriers

article

Cloramphenicol: A pharmacological chaperone?

scholarly article by Roberto Giugliani et al published February 2012 in Molecular Genetics and Metabolism

Commentaire de l’article « Cholestase néonatale révélatrice d’un phénotype intermédiaire d’une maladie de Gaucher type 2 »

scientific article published on 10 June 2009

Concerning "Liver steatosis is highly prevalent and is associated with metabolic risk factors and liver fibrosis in adult patients with type 1 Gaucher disease" by Nascimbeni et al

scientific article published on 16 September 2020

Consequências da judicialização das políticas de saúde: custos de medicamentos para as mucopolissacaridoses

Correction: BRCA1 and BRCA2 mutational profile and prevalence in hereditary breast and ovarian cancer (HBOC) probands from Southern Brazil: Are international testing criteria appropriate for this specific population?

artículo científico publicado en 2018

Correction: Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients.

artículo científico publicado en 2017

Correction: Hepatic glycogen storage diseases are associated to microbial dysbiosis

scientific article published on 06 June 2019

Correlation between brain MR spectroscopy and BMB score in type 1 Gaucher disease: Is there any?

Corrigendum to Universal newborn screening: A roadmap for action molecular genetics and metabolism 124 (2018) 177-183

artículo científico publicado en 2019

Could enzyme replacement therapy promote immune tolerance in Gaucher disease type 1?

artículo científico publicado en 2016

Court-ordered access to treatment of rare genetic diseases: Fabry Disease in the state of Rio Grande do Sul, Brazil

artículo científico publicado en 2012

Cytokines levels in late-diagnosed Classical Homocystinuria patients

artículo científico publicado en 2018

DNA damage in leukocytes from pretreatment mucopolysaccharidosis type II patients; protective effect of enzyme replacement therapy ⬇️

artículo científico publicado el 18 de febrero de 2011

DOES WHOLE-BODY PERIODIC ACCELERATION REDUCE NON-MOTOR SYMPTOMS IN PERSONS WITH PARKINSON’S DISEASE?

scholarly article in Innovation in Aging, vol. 1, Suppl 1, June 2017

Dentomaxillofacial manifestations of mucopolysaccharidosis VI: clinical and imaging findings from two cases, with an emphasis on the temporomandibular joint

artículo científico publicado en 2013

Determination of amylose/amylopectin ratio of starches

artículo científico publicado en 2015

Development of an inventory to assess perceived barriers related to PKU treatment

scientific article published on 01 May 2020

Does enzyme replacement therapy enhance brain-derived neurotrophic factor expression in Gaucher disease?

artículo científico publicado en 2015

Does phase angle correlate with hyperhomocysteinemia? A study of patients with classical homocystinuria

scientific article published on 07 August 2012

Domino Liver Transplant in Maple Syrup Urine Disease: Technical Details of Cases in Which the First Surgery Involved a Living Donor

artículo científico publicado en 2019

Effect of BTD gene variants on in vitro biotinidase activity

artículo científico publicado en 2019

Effects of imiglucerase on the growth and metabolism of Gaucher disease type I patients: a systematic review

artículo científico publicado en 2013

Efficacy and safety of idursulfase therapy in patients with mucopolysaccharidosis type II with and without comparison to placebo: systematic review and meta-analysis

artículo científico publicado en 2013

Efficacy and safety of intravenous laronidase for mucopolysaccharidosis type I: A systematic review and meta-analysis.

artículo científico publicado en 2017

Enigmatic in vivo GlcNAc-1-phosphotransferase (GNPTG) transcript correction to wild type in two mucolipidosis III gamma siblings homozygous for nonsense mutations

artículo científico publicado en 2016

Enzyme Replacement Therapy in a Patient with Gaucher Disease Type III: A Paradigmatic Case Showing Severe Adverse Reactions Started a Long Time After the Beginning of Treatment

scientific article published on 21 February 2013

Enzyme replacement therapy for Fabry disease: A systematic review and meta-analysis

artículo científico publicado en 2012

Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network

artículo científico publicado en 2013

Enzyme replacement therapy for mucopolysaccharidosis VI: A phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, o

artículo científico publicado en 2006

Enzyme replacement therapy for mucopolysaccharidosis VI: Growth and pubertal development in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase.

artículo científico publicado en 2010

Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase

artículo científico publicado en 2010

Enzyme replacement therapy in a patient with type III Gaucher disease: Report of a paradigmatic case

Erratum to: ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

artículo científico publicado en 2016

Erratum to: In vitro digestion of starches in a dynamic gastrointestinal model: an innovative study to optimize dietary management of patients with hepatic glycogen storage diseases

artículo científico publicado en 2015

Erratum to: Serum Markers of Neurodegeneration in Maple Syrup Urine Disease

artículo científico publicado en 2016

Esophageal stenosis in a child presenting a de novo 7q terminal deletion

artículo científico publicado en 2010

Ethical issues related to the access to orphan drugs in Brazil: the case of mucopolysaccharidosis type I.

artículo científico publicado en 2011

Evaluation of orofacial motricity in patients with mucopolysaccharidosis: a cross-sectional study

article

Evaluation of plasma biomarkers of inflammation in patients with maple syrup urine disease

scientific article published on 08 May 2018

Evaluation of the frequency of non-motor symptoms of Parkinson's disease in adult patients with Gaucher disease type 1.

artículo científico publicado en 2019

Evidence that DNA damage is associated to phenylalanine blood levels in leukocytes from phenylketonuric patients

artículo científico publicado en 2009

Evidence that l-Carnitine and Selenium Supplementation Reduces Oxidative Stress in Phenylketonuric Patients

artículo científico publicado en 2010

Exome sequencing for mucolipidosis III: Detection of a novel GNPTAB gene mutation in a patient with a very mild phenotype

artículo científico publicado en 2014

Experimental evidence of oxidative stress in plasma of homocystinuric patients: A possible role for homocysteine

artículo científico publicado en 2011

Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review

artículo científico publicado en 2010

Extension of the molecular analysis to the promoter region of the iduronate 2-sulfatase gene reveals genomic alterations in mucopolysaccharidosis type II patients with normal coding sequence

artículo científico publicado en 2013

Feeding Difficulties and Orofacial Myofunctional Disorder in Patients with Hepatic Glycogen Storage Diseases

artículo científico publicado en 2018

Functional capacity evaluation of patients with mucopolysaccharidosis

artículo científico publicado en 2012

Further cases of “neighbor” mutations in mucopolysaccharidosis type II

artículo científico publicado en 2006

GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms

artículo científico publicado en 2017

Gait characteristics of post-poliomyelitis patients: standardization of quantitative data reporting

artículo científico publicado en 2013

Gastrointestinal disorders and miglustat therapy: A case report

Gaucher disease type I: Assessment of basal metabolic rate in patients from southern Brazil ⬇️

artículo científico publicado el 13 de noviembre de 2010

Genetic analysis of patients with fructose-1,6-bisphosphatase deficiency

artículo científico publicado en 2019

Genetic mapping of pheU, an Escherichia coli gene for phenylalanine tRNA ⬇️

artículo científico publicado el 1 de mayo de 1984

Genetic studies in a cluster of mucopolysaccharidosis type VI patients in Northeast Brazil

artículo científico publicado en 2011

Ghrelin, leptin and adiponectin levels in Gaucher disease type I patients on enzyme replacement therapy.

artículo científico publicado en 2014

Glycogen storage disease type I: clinical and laboratory profile

artículo científico publicado en 2014

Glycogen storage diseases: Twenty-seven new variants in a cohort of 125 patients

artículo científico publicado en 2019

Health-related quality of life of children and adolescents with osteogenesis imperfecta: a cross-sectional study using PedsQL™.

artículo científico publicado en 2018

Hepatic glycogen storage diseases are associated to microbial dysbiosis

scientific article published on 02 April 2019

Hepatocellular carcinoma in Gaucher disease: Reinforcing the proposed guidelines

scientific article published on 18 October 2018

Human leukocyte antigens and Gaucher disease

artículo científico publicado en 2012

Humoral immune response in adult Brazilian patients with Mucolipidosis III gamma

scientific article published on 01 July 2019

Hyperimmunoglobulinemia in pediatric Gaucher patients in Southern Brazil

article

Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients.

artículo científico publicado en 2003

Imbalanced cellular metabolism compromises cartilage homeostasis and joint function in a mouse model of mucolipidosis type III gamma

scientific article published on 06 October 2020

Impact of COVID-19 on academic mothers

artículo científico publicado en 2020

In vitro digestion of starches in a dynamic gastrointestinal model: an innovative study to optimize dietary management of patients with hepatic glycogen storage diseases

artículo científico publicado en 2014

Infant mortality in Brazil attributable to inborn errors of metabolism associated with sudden death: a time-series study (2002-2014)

article

Inflammasome during pregnancy in a Gaucher disease patient

Information and Diagnosis Networks - tools to improve diagnosis and treatment for patients with rare genetic diseases

scientific article published on 10 June 2019

Introduction to the special issue on Clinical Genetics in Latin America

artículo científico publicado en 2020

Is lipid metabolism altered in classical homocystinuria?

scientific article published on 24 April 2012

Is the gut microbiota dysbiotic in patients with classical homocystinuria?

artículo científico publicado en 2020

KHK inhibition for the treatment of hereditary fructose intolerance and nonalcoholic fatty liver disease: a double-edged sword

artículo científico publicado en 2020

KIR genes and HLA class I ligands in Gaucher disease

artículo científico

L-carnitine blood levels and oxidative stress in treated phenylketonuric patients

artículo científico publicado en 2008

Leptin concentrations and SCD-1 indices in classical homocystinuria: Evidence for the role of sulfur amino acids in the regulation of lipid metabolism.

artículo científico publicado en 2017

Liver involvement in patients with Gaucher disease types I and III

artículo científico publicado en 2020

Liver manifestations in a cohort of 39 patients with congenital disorders of glycosylation: pin-pointing the characteristics of liver injury and proposing recommendations for follow-up

artículo científico publicado en 2021

Living related versus deceased donor liver transplantation for maple syrup urine disease.

artículo científico publicado en 2016

Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase

artículo científico publicado en 2008

Maple syrup urine disease in Brazil: a panorama of the last two decades

artículo científico publicado en 2014

Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity

artículo científico publicado en 2020

Medical Costs Related to Enzyme Replacement Therapy for Mucopolysaccharidosis Types I, II, and VI in Brazil: A Multicenter Study

article

Molecular cloning and regulation of expression of the genes for initiation factor 3 and two aminoacyl-tRNA synthetases.

artículo científico publicado en 1982

Molecular cloning and sequencing ofpheU, a gene forEscherichia colitRNAPhe ⬇️

artículo científico publicado el 11 de julio de 1983

Mucolipidosis II and III alpha/beta in Brazil: analysis of the GNPTAB gene

artículo científico publicado en 2013

Mucopolysaccharidoses in Brazil: what happens from birth to biochemical diagnosis?

artículo científico publicado en 2008

Mucopolysaccharidoses in northern Brazil: Targeted mutation screening and urinary glycosaminoglycan excretion in patients undergoing enzyme replacement therapy.

artículo científico publicado en 2011

Mucopolysaccharidosis

article

Mucopolysaccharidosis VI and effects on growth of the apical bases: a case report.

artículo científico publicado en 2018

Mucopolysaccharidosis VII: clinical, biochemical and molecular investigation of a Brazilian family

article

Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patients.

artículo científico publicado en 2013

Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): assessment of joint mobility and grip and pinch strength

article

Mucopolysaccharidosis type VI: Identification of novel mutations on the arylsulphatase B gene in South American patients.

artículo científico publicado en 2005

Multiple sulfatase deficiency: clinical report and description of two novel mutations in a Brazilian patient

artículo científico publicado en 2009

Natural history of multiple sulfatase deficiency: retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease

artículo científico publicado en 2020

Nerve conduction studies, electromyography and sympathetic skin response in Fabry's disease

artículo científico publicado en 2003

New approaches to the treatment of orphan genetic disorders: Mitigating molecular pathologies using chemicals

artículo científico publicado en 2015

New cases of thalidomide embryopathy in Brazil

article

Next-generation sequencing corroborates a probable de novo GNPTG variation previously detected by Sanger sequencing

artículo científico publicado en 2017

Ocular manifestations in classic homocystinuria

artículo científico publicado en 2020

Optimized loading test to evaluate responsiveness to tetrahydrobiopterin (BH4) in Brazilian patients with phenylalanine hydroxylase deficiency

artículo científico publicado en 2011

Osteopontin: a potential biomarker of Gaucher disease

scientific article published on 01 April 2015

Outcomes of screening for gammopathies in children and adults with Gaucher disease type 1 in a cohort from Brazil and the United States

artículo científico publicado en 2020

Oxidative stress in patients with mucopolysaccharidosis type II before and during enzyme replacement therapy ⬇️

artículo científico publicado el 26 de febrero de 2011

Phenylketonuria Diagnosis by Massive Parallel Sequencing and Genotype-Phenotype Association in Brazilian Patients

artículo científico publicado en 2020

Phenylketonuria and Gut Microbiota: A Controlled Study Based on Next-Generation Sequencing

artículo científico publicado en 2016

Pitfalls in the prenatal diagnosis of mucolipidosis II alpha/beta: A case report

artículo científico publicado en 2014

Prenatal diagnosis of mucopolysaccharidosis VI by enzyme assay in a dried spot of fetal blood: a pioneering case report

artículo científico publicado en 2010

Prevalence and causes of congenital microcephaly in the absence of a Zika virus outbreak in southern Brazil

artículo científico publicado en 2018

Prevalence of Hispanic BRCA1 and BRCA2 mutations among hereditary breast and ovarian cancer patients from Brazil reveals differences among Latin American populations

artículo científico publicado en 2016

Prevalence of the most common pathogenic variants in three genes for inborn errors of metabolism associated with sudden unexpected death in infancy: a population-based study in south Brazil

scientific article published on 24 July 2020

Prevalence of thrombophilia and thrombotic events inpatients with Fabry disease in a reference center forlysosomal disorders in Southern Brazil

article

Prospective study of 11 Brazilian patients with mucopolysaccharidosis II

article

Proteasome inhibitor as an adjuvant treatment for Gaucher disease?

Punctate calcifications in lysosomal storage disorders

scientific article published on 01 July 2009

Quality of life and adherence to treatment in early-treated Brazilian phenylketonuria pediatric patients

artículo científico publicado en 2017

Quality of life in caregivers of children and adolescents with Osteogenesis Imperfecta

artículo científico publicado en 2015

Quality of life in mucopolysaccharidoses: construction of a specific measure using the focus group technique

artículo científico publicado en 2018

Quality of life of brazilian patients with Gaucher disease and fabry disease

artículo científico publicado en 2012

Rapidly advancing phenotype consistently identified in five Brazilian MPS VI patients homozygous for the R315Q mutation

article

Rare GBA1 genotype associated with severe bone disease in Gaucher disease type 1

artículo científico publicado en 2019

Rare disease landscape in Brazil: report of a successful experience in inborn errors of metabolism

artículo científico publicado en 2016

Reply to Letter to the Editor – Leptin levels in Gaucher disease type I patients: A methodological approach

artículo científico publicado en 2015

Reported outcomes of 453 pregnancies in patients with Gaucher disease: An analysis from the Gaucher outcome survey

artículo científico publicado en 2016

Screening of high-risk Gaucher disease patients using dried blood spots techniques

artículo científico publicado en 2013

Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders

scientific article published on 11 April 2019

Serum Markers of Neurodegeneration in Maple Syrup Urine Disease

artículo científico publicado en 2016

Severe phenotype in MPS II patients associated with a large deletion including contiguous genes

article

Severity score system for progressive myelopathy: development and validation of a new clinical scale

artículo científico publicado en 2012

Should neonatal hyperparathyroidism associated with mucolipidosis II/III be treated pharmacologically?a

scientific article published on 01 January 2013

Sleep abnormalities in untreated patients with mucopolysaccharidosis type VI

artículo científico publicado en 2011

Stearoyl-CoA Desaturase-1: Is It the Link between Sulfur Amino Acids and Lipid Metabolism?

artículo científico publicado en 2015

Successful domino liver transplantation in maple syrup urine disease using a related living donor

artículo científico publicado en 2014

Taliglucerase alfa to type 1 Gaucher disease: A south Brazilian experience

Tetrahydrobiopterin responsiveness of patients with phenylalanine hydroxylase deficiency

artículo científico publicado en 2011

The germline mutational landscape of BRCA1 and BRCA2 in Brazil.

artículo científico publicado en 2018

The incidence of p.R506Q and c.G20210A mutations in South Brazilian patients with Fabry disease and with Gaucher disease

article

The microbiome and inborn errors of metabolism: Why we should look carefully at their interplay?

scientific article published on 01 July 2018

The prognostic value of the serum ferritin in a southern Brazilian cohort of patients with Gaucher disease

artículo científico publicado en 2016

The rs2229611 (G6PC:c.*23 T>C) is associated with glycogen storage disease type Ia in Brazilian patients

artículo científico publicado en 2020

Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)

scientific article published on 01 April 2005

Topiramate is effective for status epilepticus and seizure control in neuraminidase deficiency

artículo científico publicado en 2011

Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten-year experience in a Brazilian center

artículo científico publicado en 2019

Unique frequency of known mutations in Brazilian MPS I patients

scientific article published on 01 January 2000

Universal newborn screening: A roadmap for action

artículo científico publicado en 2018

Use of a multiplex ligation-dependent probe amplification method for the detection of deletions/duplications in the GBA1 gene in Gaucher disease patients

artículo científico publicado en 2016

Visual Dysfunction of Type I and VI Mucopolysaccharidosis Patients Evaluated with Visual Evoked Cortical Potential.

artículo científico publicado en 2012

[High cost drugs for rare diseases in Brazil: the case of lysosomal storage disorders]

artículo científico publicado en 2010

[Report of a Brazilian patient with Wolfram Syndrome]

artículo científico publicado en 2002

[The thesis of judicialization of health care by the elites: medication for mucopolysaccharidosis]

scientific article published on 01 April 2013

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