D. Möslinger

发表

[Effect of psychotherapeutic interventions on weight reduction and personality development of a 13-year-old boy with Prader-Willi syndrome].

K. Widhalm, E. Wurst, D. Möslinger, 1992, Klinische Pädiatrie.

Estimation of the false-negative rate in newborn screening for congenital adrenal hyperplasia.

T. Battelino, F. Waldhauser, S. Baumgartner-Parzer, 2005, European journal of endocrinology.

Transcultural pediatrics: Compliance and outcome of phenylketonuria patients from families with an immigration background

S. Stöckler‐Ipsiroglu, P. Burgard, H. Bode, 2005, Wiener klinische Wochenschrift.

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.

The natural history of classic galactosemia: lessons from the GalNet registry

S. Waisbren, M. Hochuli, S. Wortmann, 2019, Orphanet Journal of Rare Diseases.

Screening for neonatal hypercholesterolemia by measuring plasma apolipoprotein B on day 5 with an ELISA

K. Widhalm, M. Schurz, D. Möslinger, 1992 .

Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients

B. Plecko, J. Zschocke, D. Karall, 2013, Journal of Inherited Metabolic Disease.

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

T. Meitinger, T. Strom, H. Prokisch, 2016, American journal of human genetics.

Galactose epimerase deficiency: lessons from the GalNet registry

D. Timson, M. Gautschi, M. Couce, 2022, Orphanet Journal of Rare Diseases.

Galactokinase deficiency: lessons from the GalNet registry

I. Rivera, P. Verloo, D. Timson, 2020, Genetics in Medicine.

Pompe disease in Austria: clinical, genetic and epidemiological aspects

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

Understanding the Role of Argininosuccinate Lyase Transcript Variants in the Clinical and Biochemical Variability of the Urea Cycle Disorder Argininosuccinic Aciduria*

J. Häberle, V. Rüfenacht, A. Pandey, 2013, The Journal of Biological Chemistry.

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.

Manifestations of neurological symptoms and thromboembolism in adults with MTHFR-deficiency

M. Baumgartner, J. Zschocke, E. Auff, 2017, Journal of the Neurological Sciences.

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.

Molecular characterisation and neuropsychological outcome of 21 patients with profound biotinidase deficiency detected by newborn screening and family studies

T. Suormala, A. Mühl, R. Baumgartner, 2003, European Journal of Pediatrics.

Molecular characterisation of 34 patients with biotinidase deficiency ascertained by newborn screening and family investigation

C. Item, A. Mühl, D. Möslinger, 2001, European Journal of Human Genetics.

Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria

T. Suormala, E. R. Baumgartner, B. Plecko, 2001, European Journal of Pediatrics.

3-methylcrotonyl-CoA carboxylase deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals

M. Baumgartner, T. Suormala, W. Yue, 2012, Orphanet Journal of Rare Diseases.

[Meconium peritonitis: intrauterine follow-up--postnatal outcome].

G. Bernaschek, A. Pollak, M. Weninger, 1995, Wiener klinische Wochenschrift.

Epilepsy in patients with propionic acidemia.

K. Rostásy, B. Plecko, D. Karall, 2009, Neuropediatrics.

Venovenous hemodiafiltration and hypothermia for treatment of cerebral edema associated with hyperammonemia.

J. Golej, R. Vargha, D. Möslinger, 2012, Indian pediatrics.

[Neonatal screening for congenital hypothyroidism].

H. Frisch, W. Strobl, D. Möslinger, 1997, Acta medica Austriaca.

Reversibility of cirrhotic regenerative liver nodules upon NTBC treatment in a child with tyrosinaemia type I

E. Holme, W. Schima, O. Bodamer, 2003, Acta paediatrica.

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

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

Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD)

B. Plecko, D. Karall, W. Sperl, 2015, Orphanet Journal of Rare Diseases.

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.

The National Austrian Newborn Screening Program – Eight years experience with mass spectrometry. Past, present, and future goals

Thomas P. Mechtler, Arnold Pollak, K. Herkner, 2010, Wiener klinische Wochenschrift.

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.

Hepatorenal Tyrosinaemia: Impact of a Simplified Diet on Metabolic Control and Clinical Outcome

M. Hochuli, A. Das, Sebene Mayorandan, 2020, Nutrients.

Project "Backtoclinic I": An overview on the state of care of adult PKU patients in Austria.

A. Kautzky-Willer, B. Plecko, D. Karall, 2021, Molecular genetics and metabolism.

Demethylation of the promoter region of GPX3 in a newborn with classical phenylketonuria.

S. Greber-Platzer, C. Item, T. Metz, 2017, Clinical biochemistry.

Mutation analysis in glycogen storage disease type 1 non-a

E. Mayatepek, F. Fresser, G. Utermann, 2000, Human Genetics.

Brain function in classic galactosemia, a galactosemia network (GalNet) members review

P. Tanpaiboon, A. Skouma, M. Brouwers, 2024, Frontiers in Genetics.