A. Lotz-Havla

发表

Retinal axonal degeneration in Niemann–Pick type C disease

S. Schneider, M. Strupp, J. Havla, 2020, Journal of Neurology.

The challenges of managing coexistent disorders with phenylketonuria: 30 cases.

N. Blau, S. Santra, A. Macdonald, 2015, Molecular genetics and metabolism.

Rad50-CARD9 interactions link cytosolic DNA sensing to IL-1β production

H. Leonhardt, Lei Jin, J. Ruland, 2014, Nature Immunology.

Newborn screening for carnitine transporter defect in Bavaria and the long-term follow-up of the identified newborns and mothers: Assessing the benefit and possible harm based on 19 ½ years of experience

J. Kreuder, E. Maier, R. Dalla Pozza, 2021, Molecular genetics and metabolism reports.

Use of sapropterin dihydrochloride in maternal phenylketonuria. A European experience of eight cases

F. Debray, A. Muntau, F. Feillet, 2014, Journal of Inherited Metabolic Disease.

Diagnostic Challenges Using a 2-Tier Strategy for Methylmalonic Acidurias: Data from 1.2 Million Dried Blood Spots

E. Maier, Amelie S Lotz-Havla, W. Röschinger, 2020, Annals of Nutrition and Metabolism.

Isoform-specific domain organization determines conformation and function of the peroxisomal biogenesis factor PEX26.

P. Pagel, S. Gersting, R. Ensenauer, 2019, Biochimica et biophysica acta. Molecular cell research.

Serum glial fibrillary acidic protein and neurofilament light chain in patients with early treated phenylketonuria

B. Nuscher, J. Havla, E. Maier, 2022, Frontiers in Neurology.

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.

An Interactive Network of Elastase, Secretases, and PAR-2 Protein Regulates CXCR1 Receptor Surface Expression on Neutrophils*

S. Gersting, D. Hartl, M. Carevic, 2014, The Journal of Biological Chemistry.

Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency

S. Wortmann, D. Karall, E. Maier, 2018, Orphanet Journal of Rare Diseases.

Management of three preterm infants with phenylketonuria.

E. Maier, A. Lotz-Havla, K. Dokoupil, 2019, Nutrition.

Subcutaneous vitamin B12 administration using a portable infusion pump in cobalamin-related remethylation disorders: a gentle and easy to use alternative to intramuscular injections

T. Brunet, J. Kohlhase, E. Maier, 2021, Orphanet Journal of Rare Diseases.

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.

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.

Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice

H. Mandel, M. Hochuli, J. Jordan, 2014, Orphanet Journal of Rare Diseases.

Identification of a New Fatty Acid Synthesis-Transport Machinery at the Peroxisomal Membrane*

S. Gersting, J. Gärtner, O. Valerius, 2011, The Journal of Biological Chemistry.

Homooligomerization of ABCA3 and its functional significance.

M. Griese, S. Gersting, R. Zarbock, 2016, International journal of molecular medicine.

Varicella zoster virus ORF25 gene product: an essential hub protein linking encapsidation proteins and the nuclear egress complex.

A. Baiker, J. Haas, S. Gersting, 2011, Journal of proteome research.

Edgetic Perturbations Contribute to Phenotypic Variability in PEX26 Deficiency

H. Waterham, S. Gersting, J. Schmiesing, 2021, Frontiers in Genetics.

Conserved targeting information in mammalian and fungal peroxisomal tail-anchored proteins

S. Thoms, J. Gärtner, A. Lotz-Havla, 2015, Scientific Reports.

IL-37 requires the receptors IL-18Rα and IL-1R8 (SIGIRR) to carry out its multifaceted anti-inflammatory program upon innate signal transduction

J. Whisstock, C. Garlanda, A. Mantovani, 2015, Nature Immunology.

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.

Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical Phenotype.

O. Sommerburg, I. Borggraefe, B. Bembi, 2015, JIMD reports.

Long-term Follow-up and Outcome of Phenylketonuria Patients on Sapropterin: A Retrospective Study

Nenad Blau, Roberto Cerone, N. Blau, 2013, Pediatrics.

Optical Coherence Tomography: Retinal Imaging Contributes to the Understanding of Brain Pathology in Classical Galactosemia

K. Parhofer, J. Havla, E. Maier, 2023, Journal of clinical medicine.

Optical Coherence Tomography to Assess Neurodegeneration in Phenylalanine Hydroxylase Deficiency

K. Parhofer, J. Havla, E. Maier, 2021, Frontiers in Neurology.

Age-dependent favorable visual recovery despite significant retinal atrophy in pediatric MOGAD: how much retina do you really need to see well?

M. Krumbholz, R. Gold, K. Rostásy, 2021, Journal of neuroinflammation.

Bioluminescence resonance energy transfer: an emerging tool for the detection of protein-protein interaction in living cells.

S. Gersting, A. Muntau, Amelie S Lotz-Havla, 2012, Methods in molecular biology.

iBRET Screen of the ABCD1 Peroxisomal Network and Mutation-Induced Network Perturbations.

R. Zimmer, C. Friedel, S. Gersting, 2021, Journal of proteome research.

Free carnitine concentrations and biochemical parameters in medium‐chain acyl‐CoA dehydrogenase deficiency: Genotype–phenotype correlation

M. Wagner, M. Haider, E. Maier, 2023, Clinical genetics.