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Anzahl der Publikationen: 16
Zeitschriftenartikel
Gernert, Jonathan A. 
ORCID: https://orcid.org/0000-0002-6655-5557; Christmann, Tara; Kaufmann, Elisabeth ORCID: https://orcid.org/0000-0002-7582-2215; Delazer, Luisa ORCID: https://orcid.org/0009-0002-1330-3628; Kirsch, Isabel; Levin, Johannes ORCID: https://orcid.org/0000-0001-5092-4306; Schönecker, Sonja ORCID: https://orcid.org/0000-0003-4499-7861; Fietzek, Urban M.; Eulenburg, Peter zu; Velten, Theresa; Gripshi, Marina; Parhofer, Klaus G. ORCID: https://orcid.org/0000-0001-9873-0412; Maier, Esther M. ORCID: https://orcid.org/0000-0002-4954-4901; Kümpfel, Tania ORCID: https://orcid.org/0000-0001-7509-5268; Lotz-Havla, Amelie S. und Havla, Joachim ORCID: https://orcid.org/0000-0002-4386-1340
(2024):
Characterization of peripapillary hyperreflective ovoid mass-like structures (PHOMS) in a broad spectrum of neurological disorders.
In: Ophthalmology [Forthcoming]
ORCID: https://orcid.org/0000-0002-6655-5557; Christmann, Tara; Kaufmann, Elisabeth ORCID: https://orcid.org/0000-0002-7582-2215; Delazer, Luisa ORCID: https://orcid.org/0009-0002-1330-3628; Kirsch, Isabel; Levin, Johannes ORCID: https://orcid.org/0000-0001-5092-4306; Schönecker, Sonja ORCID: https://orcid.org/0000-0003-4499-7861; Fietzek, Urban M.; Eulenburg, Peter zu; Velten, Theresa; Gripshi, Marina; Parhofer, Klaus G. ORCID: https://orcid.org/0000-0001-9873-0412; Maier, Esther M. ORCID: https://orcid.org/0000-0002-4954-4901; Kümpfel, Tania ORCID: https://orcid.org/0000-0001-7509-5268; Lotz-Havla, Amelie S. und Havla, Joachim ORCID: https://orcid.org/0000-0002-4386-1340
(2024):
Characterization of peripapillary hyperreflective ovoid mass-like structures (PHOMS) in a broad spectrum of neurological disorders.
In: Ophthalmology [Forthcoming]
Lotz-Havla, Amelie S.; Katzdobler, Sabrina; Nuscher, Brigitte; Weiß, Katharina; Levin, Johannes; Havla, Joachim und Maier, Esther M.
(29. September 2022):
Serum glial fibrillary acidic protein and neurofilament light chain in patients with early treated phenylketonuria.
In: Frontiers in Neurology, Bd. 13
[PDF, 1MB]
Lotz-Havla, Amelie S.; Weiß, Katharina; Schiergens, Katharina; Regenauer-Vandewiele, Stephanie; Parhofer, Klaus G.; Christmann, Tara; Böhm, Luise; Havla, Joachim und Maier, Esther M.
(10. Dezember 2021):
Optical Coherence Tomography to Assess Neurodegeneration in Phenylalanine Hydroxylase Deficiency.
In: Frontiers in Neurology, Bd. 12, 780624
[PDF, 8MB]
Lotz-Havla, Amelie S.; Woidy, Mathias; Guder, Philipp; Schmiesing, Jessica; Erdmann, Ralf; Waterham, Hans R.; Muntau, Ania C. und Gersting, Soren W.
(4. November 2021):
Edgetic Perturbations Contribute to Phenotypic Variability in PEX26 Deficiency.
In: Frontiers in Genetics, Bd. 12, 726174
[PDF, 2MB]
Lotz-Havla, Amelie S.; Weiß, Katharina J.; Schiergens, Katharina A.; Brunet, Theresa; Kohlhase, Jürgen; Regenauer-Vandewiele, Stephanie und Maier, Esther M.
(2021):
Subcutaneous vitamin B12 administration using a portable infusion pump in cobalamin-related remethylation disorders: a gentle and easy to use alternative to intramuscular injections.
In: Orphanet journal of rare diseases, Bd. 16, Nr. 1, 215
[PDF, 1MB]
Havla, Joachim; Pakeerathan, Thivya; Schwake, Carolin; Bennett, Jeffrey L.; Kleiter, Ingo; Felipe-Rucián, Ana; Joachim, Stephanie C.; Lotz-Havla, Amelie S.; Kümpfel, Tania; Krumbholz, Markus; Wendel, Eva M.; Reindl, Markus; Thiels, Charlotte; Lücke, Thomas; Hellwig, Kerstin; Gold, Ralf; Rostasy, Kevin und Ayzenberg, Ilya
(2021):
Age-dependent favorable visual recovery despite significant retinal atrophy in pediatric MOGAD: how much retina do you really need to see well?
In: Journal of neuroinflammation, Bd. 18, Nr. 1, 121
[PDF, 1MB]
Havla, Joachim; Pakeerathan, Thivya; Schwake, Carolin; Bennett, Jeffrey L.; Kleiter, Ingo; Felipe-Rucian, Ana; Joachim, Stephanie C.; Lotz-Havla, Amelie S.; Kumpfel, Tania; Krumbholz, Markus; Wendel, Eva M.; Reindl, Markus; Thiels, Charlotte; Lucke, Thomas; Hellwig, Kerstin; Gold, Ralf; Rostasy, Kevin und Ayzenberg, Ilya
(2021):
Age-dependent favorable visual recovery despite significant retinal atrophy in pediatric MOGAD: how much retina do you really need to see well?
In: Journal of Neuroinflammation, Bd. 18, Nr. 1, 121
Lotz-Havla, Amelie S.; Weiß, Katharina J.; Schiergens, Katharina A.; Brunet, Theresa; Kohlhase, Jürgen; Regenauer-Vandewiele, Stephanie und Maier, Esther M.
(2021):
Subcutaneous vitamin B12 administration using a portable infusion pump in cobalamin-related remethylation disorders: a gentle and easy to use alternative to intramuscular injections.
In: Orphanet Journal of Rare Diseases, Bd. 16, Nr. 1, 215
Lotz-Havla, Amelie S.; Woidy, Mathias; Guder, Philipp; Friedel, Caroline C.; Klingbeil, Julian M.; Bulau, Ana-Maria; Schultze, Anja; Dahmen, Ilona; Noll-Puchta, Heidi; Kemp, Stephan; Erdmann, Ralf; Zimmer, Ralf; Muntau, Ania C. und Gersting, Soren W.
(2021):
iBRET Screen of the ABCD1 Peroxisomal Network and Mutation-Induced Network Perturbations.
In: Journal of Proteome Research, Bd. 20, Nr. 9: S. 4366-4380
Schiergens, Katharina A.; Weiss, Katharina J.; Roeschinger, Wulf; Lotz-Havla, Amelie S.; Schmitt, Joachim; Dalla Pozza, Robert; Ulrich, Sarah; Odenwald, Birgit; Kreuder, Joachim und Maier, Esther M.
(2021):
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 1/2 years of experience.
In: Molecular Genetics and Metabolism Reports, Bd. 28, 100776
Havla, Joachim; Moser, Marlene; Sztatecsny, Clara; Lotz-Havla, Amelie S.; Maier, Esther M.; Hizli, Baccara; Schinner, Regina; Kümpfel, Tania; Strupp, Michael; Bremova-Ertl, Tatiana und Schneider, Susanne A,
(2020):
Retinal axonal degeneration in Niemann–Pick type C disease.
In: Journal of Neurology, Bd. 267: S. 2070-2082
[PDF, 1MB]
Weiss, Katharina J.; Roeschinger, Wulf; Blessing, Holger; Lotz-Havla, Amelie S.; Schiergens, Katharina A. und Maier, Esther M.
(2020):
Diagnostic Challenges Using a 2-Tier Strategy for Methylmalonic Acidurias: Data from 1.2 Million Dried Blood Spots.
In: Annals of Nutrition and Metabolism, Bd. 76, Nr. 4: S. 268-276
Guder, Philipp; Lotz-Havla, Amelie S.; Woidy, Mathias; Reiss, Dunja D.; Danecka, Marta K.; Schatz, Ulrich A.; Becker, Marc; Ensenauer, Regina; Pagel, Philipp; Buettner, Lars; Muntau, Ania C. und Gersting, Soren W.
(2019):
Isoform-specific domain organization determines conformation and function of the peroxisomal biogenesis factor PEX26.
In: Biochimica et Biophysica Acta-Molecular Cell Research, Bd. 1866, Nr. 3: S. 518-531
Lotz-Havla, Amelie S.; Röschinger, Wulf; Schiergens, Katharina; Singer, Katharina; Karall, Daniela; Konstantopoulou, Vassiliki; Wortmann, Saskia B. und Maier, Esther M.
(2018):
Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency.
In: Orphanet Journal of Rare Diseases
13:122
[PDF, 606kB]
Muntau, Ania C.; Burlina, Alberto; Eyskens, Francois; Freisinger, Peter; Laet, Corinne de; Leuzzi, Vincenzo; Rutsch, Frank; Sivri, H. Serap; Vijay, Suresh; Bal, Milva Orquidea; Gramer, Gwendolyn; Pazdirkova, Renata; Cleary, Maureen; Lotz-Havla, Amelie S.; Munafo, Alain; Mould, Diane R.; Moreau-Stucker, Flavie und Rogoff, Daniela
(2017):
Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients < 4 years: results from the SPARK open-label, multicentre, randomized phase IIIb trial.
In: Orphanet Journal of Rare Diseases
12:47
[PDF, 1MB]
Frixel, Sabrina; Lotz-Havla, Amelie S.; Kern, Sunčana; Kaltenborn, Eva; Wittmann, Thomas; Gersting, Søren W.; Muntau, Ania C.; Zarbock, Ralf und Griese, Matthias
(2016):
Homooligomerization of ABCA3 and its functional significance.
In: International Journal of Molecular Medicine, Bd. 38, Nr. 2: S. 558-566