M. Huemer

发表

V. Rubio, H. Mandel, J. Häberle, 2019, Journal of inherited metabolic disease.

Lipodystrophy in patients with juvenile dermatomyositis--evaluation of clinical and metabolic abnormalities.

R. Petty, M. Huemer, D. Cabral, 2001, The Journal of rheumatology.

Newborn screening for homocystinurias: Recent recommendations versus current practice

M. Baumgartner, H. Blom, A. Ribes, 2018, Journal of inherited metabolic disease.

Newborn screening for homocystinurias: recent recommendations versus current practice

M. Baumgartner, H. Blom, A. Ribes, 2018, Journal of Inherited Metabolic Disease.

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

M. Baumgartner, H. Blom, A. Ribes, 2015, Journal of Inherited Metabolic Disease.

Hyperhomocysteinemia in Children Treated with Antiepileptic Drugs Is Normalized by Folic Acid Supplementation

H. Ulmer, M. Huemer, M. Hubmann, 2005, Epilepsia.

Guidelines for diagnosis and management... cblF, cblG, cblJ and MTHFR deficiency

Ich, M. Baumgartner, H. Blom, 2019 .

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

M. Baumgartner, H. Blom, L. Vilarinho, 2016, Journal of Inherited Metabolic Disease.

The Austrian version of the Childhood Health Assessment Questionnaire (CHAQ) and the Child Health Questionnaire (CHQ).

M. Huemer, N. Ruperto, H. Huppertz, 2001, Clinical and experimental rheumatology.

Development and Psychometric Evaluation of the MetabQoL 1.0: A Quality of Life Questionnaire for Paediatric Patients with Intoxication-Type Inborn Errors of Metabolism.

M. Baumgartner, M. Landolt, S. Kölker, 2017, JIMD reports.

Homocystinuria patient and caregiver survey: experiences of diagnosis and patient satisfaction

M. Landolt, M. Huemer, V. Kožich, 2021, Orphanet Journal of Rare Diseases.

Total Homocysteine, Folate, and Cobalamin, and Their Relation to Genetic Polymorphisms, Lifestyle and Body Mass Index in Healthy Children and Adolescents

H. Ulmer, M. Huemer, M. Hubmann, 2006, Pediatric Research.

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

H. Ulmer, O. Bodamer, M. Huemer, 2012, Journal of Inherited Metabolic Disease.

P. Bonnen, A. El-Hattab, M. Huemer, 2019, Front. Genet..

Nutritional infantile vitamin B12 deficiency: pathobiochemical considerations in seven patients

B. Plecko, M. Huemer, W. Sperl, 2005, Archives of Disease in Childhood - Fetal and Neonatal Edition.

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

M. Hersberger, H. Ulmer, T. Coşkun, 2016, Journal of Inherited Metabolic Disease.

Phenylketonuria and Hirschsprung Disease—A Report of an Unusual Neonatal Presentation

B. Thöny, R. Fingerhut, M. Huemer, 2017 .

Caregiver burden, and parents' perception of disease severity determine health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism

M. Baumgartner, M. Gautschi, M. Landolt, 2022, Molecular genetics and metabolism reports.

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

M. Baumgartner, M. Huemer, 2019, Journal of inherited metabolic disease.

Patterns of joint involvement at onset differentiate oligoarticular juvenile psoriatic arthritis from pauciarticular juvenile rheumatoid arthritis.

R. Petty, M. Huemer, D. Cabral, 2002, The Journal of rheumatology.

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry

M. Baumgartner, B. Seifert, H. Blom, 2018, Journal of Inherited Metabolic Disease.

Influence of early identification and therapy on long‐term outcomes in early‐onset MTHFR deficiency

Gloria L. Porras-Hurtado, Y. Chien, C. Moreau, 2022, Journal of inherited metabolic disease.

Elevated Homocysteine after Elevated Propionylcarnitine or Low Methionine in Newborn Screening Is Highly Predictive for Low Vitamin B12 and Holo-Transcobalamin Levels in Newborns

S. Wortmann, B. Plecko, D. Karall, 2020, Diagnostics.

M. Baumgartner, M. Ribeiro, M. Landolt, 2020, Journal of inherited metabolic disease.

No evidence for hyperhomocysteinemia or increased prevalence of genetic polymorphisms in the homocysteine pathway in patients with moderate juvenile idiopathic arthritis.

H. Ulmer, M. Huemer, C. Huemer, 2005, The Journal of rheumatology.

Diagnosis and Care of Infants and Children with Pompe Disease

T. Marquardt, M. Huemer, M. Rohrbach, 2020, Klinische Pädiatrie.

Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in Germany.

N. Karabul, T. Marquardt, R. Santer, 2015, JIMD reports.

Pompe disease in Austria: clinical, genetic and epidemiological aspects

H. Moser, W. Löscher, W. Schmidt, 2017, Journal of Neurology.

Incidence of pediatric rheumatic diseases in a regional population in Austria.

M. Huemer, T. Dorner, C. Huemer, 2001, The Journal of rheumatology.

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

M. Baumgartner, M. Hochuli, R. Lachmann, 2013, Journal of Inherited Metabolic Disease.

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

Robert W. Taylor, H. Prokisch, N. Hauser, 2015, Journal of Inherited Metabolic Disease.

Scleroderma-like syndrome in a child: eosinophilic fasciitis or scleredema adultorum?

A. Seeber, M. Huemer, C. Huemer, 2000, European Journal of Pediatrics.

Glucocorticoids enhance interleukin‐4 production to neo‐antigen (hyaluronidase) in children immunocompromised with cytostatic drugs

M. Huemer, Z. Szépfalusi, M. Edelbauer, 2002, Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology.

Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy

M. Baumgartner, K. Seppi, D. Karall, 2014, Orphanet Journal of Rare Diseases.

Cystathionine β‐synthase deficiency in the E‐HOD registry‐part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis

M. Baumgartner, H. Blom, S. Kölker, 2020, Journal of inherited metabolic disease.

Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire.

H. Mizumoto, S. Wortmann, S. Grünert, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Growth and body composition in children with classical phenylketonuria: Results in 34 patients and review of the literature

M. Huemer, C. Huemer, D. Möslinger, 2007, Journal of Inherited Metabolic Disease.

When to Measure Plasma Homocysteine and how to Place it in Context: The Homocystinurias

M. Huemer, 2020, Journal of mother and child.

Phenotype, treatment practice and outcome in the cobalamin‐dependent remethylation disorders and MTHFR deficiency: Data from the E‐HOD registry

M. Baumgartner, B. Seifert, H. Blom, 2019, Journal of inherited metabolic disease.

Successful intrauterine treatment of a patient with cobalamin C defect

M. Baumgartner, D. Scheible, M. Huemer, 2016, Molecular genetics and metabolism reports.

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

M. Baumgartner, T. Suormala, S. Lorenzl, 2015, Journal of Inherited Metabolic Disease.

Prenatal and postnatal treatment in cobalamin C defect.

T. Suormala, J. Sass, O. Bodamer, 2005, The Journal of pediatrics.

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

Anita MacDonald, Flemming Skovby, Brian Fowler, 2014, Orphanet Journal of Rare Diseases.

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

M. Baumgartner, H. Mandel, E. Martins, 2014, Journal of Inherited Metabolic Disease.

The impact of ammonia levels and dialysis on outcome in 202 patients with neonatal onset urea cycle disorders

M. Landolt, J. Häberle, M. Huemer, 2018, Journal of Inherited Metabolic Disease.

V. Rubio, N. Boddaert, J. Häberle, 2012, Orphanet Journal of Rare Diseases.

Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision

M. Baumgartner, M. Hochuli, S. Grünert, 2021, Journal of inherited metabolic disease.

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

M. Tesařová, J. Zeman, S. Kmoch, 2010, Archives of Disease in Childhood.

Revised recommendations for the management of Gaucher disease in children

P. Kaplan, H. Baris, M. Rocco, 2013, European Journal of Pediatrics.

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

I. T. de Almeida, H. Blom, M. Hochuli, 2016, Journal of Inherited Metabolic Disease.

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

S. Lorenzl, E. Haschke-Becher, M. Huemer, 2009, Expert review of neurotherapeutics.

Homocysteine, folate and

S. Lorenzl, M. Huemer, K. Pietrzik, 2009 .

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

J. Häberle, M. Huemer, 2015, JIMD reports.

Identificationn of the molecular defect in patients with peroxisomal mosaicismm using a novel method involving culturing of cells at 40 ° C : implicationss for other inborn errors of metabolism

H. Waterham, R. Wanders, J. Smeitink, 2017 .

Identificatio nn of the molecular defect in patients with peroxisomal mosaicismm using a novel method involving culturin g of cells at 40 ° C : implicationss for other inborn errors of metabolism

H. Waterham, R. Wanders, J. Smeitink, 2007 .

Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40°C: Implications for other inborn errors of metabolism

H. Waterham, H. Mandel, R. Wanders, 2004, Human mutation.

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

M. Baumgartner, T. Suormala, P. Chinnery, 2016, Journal of Inherited Metabolic Disease.

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

Marni J. Falk, T. Wieland, T. Meitinger, 2013, American journal of human genetics.

Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency

M. Baumgartner, T. Suormala, D. S. Froese, 2016, Human mutation.

Living with Intoxication-Type Inborn Errors of Metabolism: A Qualitative Analysis of Interviews with Paediatric Patients and Their Parents.

M. Baumgartner, A. Schlune, M. Landolt, 2016, JIMD reports.

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

M. Baumgartner, M. Landolt, M. Huemer, 2014, Orphanet Journal of Rare Diseases.

[Periodic fever syndromes].

M. Huemer, C. Huemer, 2006, Zeitschrift fur Rheumatologie.

Dihydropyrimidine Dehydrogenase Deficiency: Metabolic Disease or Biochemical Phenotype?

A. V. van Kuilenburg, R. Hennekam, M. Huemer, 2017, JIMD reports.

Kinking and stenosis of the carotid artery associated with homolateral ischaemic brain infarction in a patient treated with cyclosporin A

S. Trattnig, M. Huemer, M. Freilinger, 1998, European Journal of Pediatrics.

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

M. Baumgartner, S. Grünert, M. Landolt, 2019, Orphanet Journal of Rare Diseases.

Risk factors for pediatric stroke: consequences for therapy and quality of life.

M. Huemer, B. Simma, T. Müller, 2007, Pediatric neurology.

Total homocysteine, B-vitamins and genetic polymorphisms in patients with classical phenylketonuria.

H. Ulmer, O. Bodamer, S. Stöckler‐Ipsiroglu, 2008, Molecular genetics and metabolism.

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

H. Prokisch, R. Rodenburg, R. Houtkooper, 2016, JIMD reports.

A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement

F. Martin, A. Schaller, M. Huemer, 2018, Human molecular genetics.

Explaining juvenile idiopathic arthritis to paediatric patients using illustrations and easy-to-read texts: improvement of disease knowledge and adherence to treatment

P. Baumgaertner, M. Huemer, C. Huemer, 2021, Pediatric Rheumatology.

Hyperhomocysteinemia in children with juvenile idiopathic arthritis is not influenced by methotrexate treatment and folic acid supplementation: a pilot study.

S. Stöckler‐Ipsiroglu, M. Huemer, T. Lang, 2003, Clinical and experimental rheumatology.

Low levels of asymmetric dimethylarginine in children with diabetes mellitus type I compared with healthy children.

H. Ulmer, O. Bodamer, M. Huemer, 2011, Jornal de Pediatria.

Extent, impact, and predictors of diagnostic delay in Pompe disease: A combined survey approach to unveil the diagnostic odyssey

N. Karabul, T. Hundsberger, M. Huemer, 2019, JIMD reports.

100 years of inherited metabolic disorders in Austria—A national registry of minimal birth prevalence, diagnosis, and clinical outcome of inborn errors of metabolism in Austria between 1921 and 2021

W. Löscher, S. Wortmann, B. Plecko, 2021, Journal of inherited metabolic disease.

Morphological spectrum, distribution and clinical correlation of white matter lesions in AIDS brains

H. Budka, M. Huemer, M. Schmidbauer, 1992, Neuropathology and applied neurobiology.

Stroke-like encephalopathy in an infant with 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency

R. Wanders, M. Huemer, W. Strobl, 1998, European Journal of Pediatrics.

Postauthorization safety study of betaine anhydrous

M. Baumgartner, H. Blom, F. Mochel, 2022, Journal of inherited metabolic disease.

A retrospective study on disease management in children and adolescents with phenylketonuria during the Covid-19 pandemic lockdown in Austria

S. Wortmann, B. Plecko, D. Karall, 2021, Orphanet Journal of Rare Diseases.

Co-therapy with S-adenosylmethionine and nicotinamide riboside improves t-cell survival and function in Arts Syndrome (PRPS1 deficiency)

A. V. van Kuilenburg, J. Christodoulou, M. Huemer, 2021, Molecular genetics and metabolism reports.

Stereotactic Radiofrequency Ablation for Liver Tumors in Inherited Metabolic Disorders

G. Widmann, R. Bale, D. Karall, 2014, CardioVascular and Interventional Radiology.

Clinical and molecular characterization of adult patients with late‐onset MTHFR deficiency

M. Baumgartner, C. Marelli, F. Mochel, 2020, Journal of inherited metabolic disease.

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

M. Baumgartner, H. Blom, L. Vilarinho, 2016, Journal of Inherited Metabolic Disease.

Genetische Fiebersyndrome

M. Huemer, M. Huemer, C. Huemer, 2006, Zeitschrift für Rheumatologie.

Measuring what matters: Why and how to include patient reported outcomes in clinical care and research on inborn errors of metabolism

M. Huemer, F. Bösch, 2023, Journal of inherited metabolic disease.

The impact of liver transplantation on health‐related quality of life in (acute) intoxication‐type inborn errors of metabolism

D. Liccardo, D. Martinelli, M. Huemer, 2023, Journal of inherited metabolic disease.

Compliance to Clinical Guidelines Determines Outcome in Glutaric Aciduria Type I in the Era of Newborn Screening

J. Sass, J. Zschocke, M. Huemer, 2010, Klinische Padiatrie.

Loss of CD4+ T cell-intrinsic arginase 1 accelerates Th1 response kinetics and reduces lung pathology during influenza infection

D. Green, M. Sitbon, N. Taylor, 2023, Immunity.

Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40°C: Implications for other inborn errors of metabolism

H. Waterham, H. Mandel, R. Wanders, 2004, Human mutation.

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

J. Häberle, M. Huemer, 2015, JIMD reports.