Lista de obras - Martina Huemer - Dominio Público Uruguay

Atypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation?

artículo científico publicado en 2016

Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data.

artículo científico publicado en 2014

Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency

artículo científico publicado en 2015

Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency.

artículo científico publicado en 2016

Clinical presentation and outcome in a series of 88 patients with the cblC defect.

artículo científico publicado en 2014

Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations

artículo científico publicado en 2015

Compliance to clinical guidelines determines outcome in glutaric aciduria type I in the era of newborn screening.

artículo científico publicado en 2010

Cross-sectional observational study of 208 patients with non-classical urea cycle disorders

artículo científico publicado en 2013

Evaluation of Implementation, Adaptation and Use of the Recently Proposed Urea Cycle Disorders Guidelines

artículo científico publicado en 2015

Free asymmetric dimethylarginine (ADMA) is low in children and adolescents with classical phenylketonuria (PKU)

artículo científico publicado en 2012

Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.

artículo científico publicado en 2016

Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.

artículo científico publicado en 2016

Health-related quality of life in paediatric patients with intoxication type inborn errors of metabolism: analysis of an international dataset

artículo científico publicado en 2020

Homocysteine, folate and vitamin B12 in neuropsychiatric diseases: review and treatment recommendations

artículo científico publicado en 2009

Low Levels of Asymmetric Dimethylarginine in Children with Diabetes Mellitus Type I Compared with Healthy Children

artículo científico publicado en 2010

Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation

artículo científico publicado en 2010

Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.

artículo científico publicado en 2016

Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy

artículo científico publicado en 2013

Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines

artículo científico publicado en 2015

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

artículo científico publicado en 2014

Quality of life, psychological adjustment, and adaptive functioning of patients with intoxication-type inborn errors of metabolism - a systematic review

artículo científico publicado en 2014

Reducing complexity: explaining inborn errors of metabolism and their treatment to children and adolescents

scientific article published on 08 November 2019

Revised recommendations for the management of Gaucher disease in children

artículo científico publicado en 2012

Stereotactic radiofrequency ablation for liver tumors in inherited metabolic disorders

artículo científico publicado en 2013

Successful intrauterine treatment of a patient with cobalamin C defect.

artículo científico publicado en 2016

Suggested guidelines for the diagnosis and management of urea cycle disorders

artículo científico publicado en 2012

The clinical presentation of cobalamin-related disorders: From acquired deficiencies to inborn errors of absorption and intracellular pathways

scientific article published on 13 February 2019

When to measure plasma homocysteine and how to place it in context: The homocystinurias

artículo científico publicado en 2020

Lista de obras de Martina Huemer

Atypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation?

Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data.

Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency

Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency.

Clinical presentation and outcome in a series of 88 patients with the cblC defect.

Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations

Compliance to clinical guidelines determines outcome in glutaric aciduria type I in the era of newborn screening.

Cross-sectional observational study of 208 patients with non-classical urea cycle disorders

Evaluation of Implementation, Adaptation and Use of the Recently Proposed Urea Cycle Disorders Guidelines

Free asymmetric dimethylarginine (ADMA) is low in children and adolescents with classical phenylketonuria (PKU)

Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.

Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.

Health-related quality of life in paediatric patients with intoxication type inborn errors of metabolism: analysis of an international dataset

Homocysteine, folate and vitamin B12 in neuropsychiatric diseases: review and treatment recommendations

Low Levels of Asymmetric Dimethylarginine in Children with Diabetes Mellitus Type I Compared with Healthy Children

Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation

Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.

Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy

Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

Quality of life, psychological adjustment, and adaptive functioning of patients with intoxication-type inborn errors of metabolism - a systematic review

Reducing complexity: explaining inborn errors of metabolism and their treatment to children and adolescents

Revised recommendations for the management of Gaucher disease in children

Stereotactic radiofrequency ablation for liver tumors in inherited metabolic disorders

Successful intrauterine treatment of a patient with cobalamin C defect.

Suggested guidelines for the diagnosis and management of urea cycle disorders

The clinical presentation of cobalamin-related disorders: From acquired deficiencies to inborn errors of absorption and intracellular pathways

When to measure plasma homocysteine and how to place it in context: The homocystinurias