A. Schlune

发表

Transient Permeability Leak of Nuclear Envelope Induced by Aldosterone

V. Shahin, H. Oberleithner, I. Buchholz, 2004, The Journal of Membrane Biology.

Passive Transport of Macromolecules through Xenopus laevis Nuclear Envelope

H. Oberleithner, I. Buchholz, K. Enss, 2003, The Journal of Membrane Biology.

Aspects of Newborn Screening in Isovaleric Acidemia

E. Mayatepek, A. Schlune, R. Ensenauer, 2018, International journal of neonatal screening.

Cardiometabolic risk factor clustering in patients with deficient branched‐chain amino acid catabolism: A case‐control study

G. Pacini, M. Roden, S. Caprio, 2020, Journal of inherited metabolic disease.

Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring.

N. Longo, C. V. van Karnebeek, B. Maranda, 2014, Molecular genetics and metabolism.

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.

Hyperargininemia due to arginase I deficiency: the original patients and their natural history, and a review of the literature

D. Häussinger, E. Mayatepek, A. Schlune, 2015, Amino Acids.

Disease control via intensified lipoprotein apheresis in three siblings with familial hypercholesterolemia.

L. Weber, A. Schlune, T. Meissner, 2016, Journal of clinical lipidology.

Dietary practices in propionic acidemia: A European survey

F. Eyskens, D. Cassiman, F. de Boer, 2017, Molecular genetics and metabolism reports.

Malonic aciduria: long-term follow-up of new patients detected by newborn screening

E. Mayatepek, A. Schlune, F. Distelmaier, 2014, European Journal of Pediatrics.

Nuclear Plug Harvesting Using Atomic Force Microscopy

V. Shahin, H. Schillers, H. Oberleithner, 2001 .

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.

Synergistic mutations in SLC3A1 and SLC7A9 leading to heterogeneous cystinuria phenotypes: pitfalls in the diagnostic workup

T. Eggermann, A. Schlune, B. Leube, 2013, Pediatric Nephrology.

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients.

S. Grünert, J. Sass, G. Mitchell, 2017, Molecular Genetics and Metabolism.

Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I - A decade of experience.

C. Greenberg, A. Schlune, S. Kölker, 2012, Molecular genetics and metabolism.

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.

Hyperargininemia due to arginase I deficiency: the original patients and their natural history, and a review of the literature

D. Häussinger, E. Mayatepek, A. Schlune, 2015, Amino Acids.

Glutathione Synthetase Deficiency: An Inborn Error of the Gamma-Glutamyl Cycle

E. Mayatepek, A. Schlune, 2011 .

Dietary practices in isovaleric acidemia: A European survey

F. Eyskens, D. Cassiman, F. de Boer, 2017, Molecular genetics and metabolism reports.

Weaning practices in phenylketonuria vary between health professionals in Europe

A. Schlune, A. Macdonald, E. V. D. van der Ploeg, 2018, Molecular genetics and metabolism reports.

Early feeding practices in infants with phenylketonuria across Europe

A. Schlune, A. Macdonald, E. V. D. van der Ploeg, 2018, Molecular genetics and metabolism reports.

Plugs in nuclear pores: Transcripts in early oocyte development identified with nanotechniques

V. Shahin, H. Schillers, H. Oberleithner, 2006, Journal of cellular biochemistry.

Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency.

S. Grünert, J. Sass, T. Derks, 2017, Molecular genetics and metabolism.

Human heterologous liver cells transiently improve hyperammonemia and ureagenesis in individuals with severe urea cycle disorders

J. Weitz, M. Yudkoff, A. Schlune, 2018, Journal of Inherited Metabolic Disease.

Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency.

D. Millington, A. Schlune, D. Koeberl, 2013, Molecular genetics and metabolism.

Pancreatitis in Maple Syrup Urine Disease – A Rare and Easily Overseen Complication

E. Mayatepek, A. Schlune, F. Baertling, 2013, Klinische Pädiatrie.

Single dose NTBC-treatment of hereditary tyrosinemia type I

A. Schlune, D. Herebian, U. Spiekerkoetter, 2012, Journal of Inherited Metabolic Disease.

Dietary practices in methylmalonic acidaemia: a European survey

F. Eyskens, D. Cassiman, A. Schlune, 2019, Journal of pediatric endocrinology & metabolism : JPEM.

Liver cirrhosis in glycogen storage disease Ib.

E. Mayatepek, H. Baba, A. Schlune, 2013, Molecular genetics and metabolism.

Electrophoretic Plugging of Nuclear Pores by Using the Nuclear Hourglass Technique

V. Shahin, C. Schäfer, H. Oberleithner, 2001, Journal of Membrane Biology.

Dietary practices in propionic acidemia: A European survey

F. Eyskens, D. Cassiman, A. Schlune, 2017, Molecular genetics and metabolism reports.