List of works - Martina Huemer

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

scientific article published on 03 January 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.

scientific article published on 20 December 2014

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

scientific article

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

scientific article

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

scientific article published on 6 March 2014

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

scientific article published on 14 April 2015

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

scientific article published on 18 January 2010

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

scientific article published on 19 June 2013

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

scientific article published on 18 February 2015

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

scientific article published on 31 January 2012

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

scientific article

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

scientific article published on 24 October 2016

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

scientific article published on 12 August 2020

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

scientific article

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

scientific article published on 12 November 2010

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

scientific article published in April 2010

Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.

scientific article published on 13 February 2016

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

Stereotactic radiofrequency ablation for liver tumors in inherited metabolic disorders

scientific article published on 23 October 2013

Successful intrauterine treatment of a patient with cobalamin C defect.

scientific article published on 4 February 2016

Suggested guidelines for the diagnosis and management of urea cycle disorders

scientific article

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

scientific article published on 02 October 2020

List of works by 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