Publications by authors named "A Kohlschütter"

196Publications

[Ophthalmological manifestations of neuronal ceroid lipofuscinoses (NCL) : NCL as diseases of brain and retina-the role of ophthalmologists].

Ophthalmologe 2021 Feb;118(2):113-118

Klinik und Poliklinik für Augenheilkunde, Universitätsklinikum Hamburg-Eppendorf, Martinistr. 52, 20246, Hamburg, Deutschland.

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February 2021

Enzymatic diagnosis of neuronal lipofuscinoses in dried blood spots using substrates for concomitant tandem mass spectrometry and fluorimetry.

J Mass Spectrom 2021 Jan 13;56(1):e4675. Epub 2020 Dec 13.

Steinbeis Centre for Biopolymer Analysis and Biomedical Mass Spectrometry, Mass Spectrometry Laboratory, Marktstrasse 29, Ruesselsheim am Main, D-65428, Germany.

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January 2021

First Recognized Patient with Genetic Vitamin E Deficiency Stable after 36 Years of Controlled Supplement Therapy.

Neurodegener Dis 2020 3;20(1):35-38. Epub 2020 Jul 3.

Department of Neuropediatrics, University Hospital and Faculty of Medicine Carl Gustav Carus, Dresden, Germany.

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July 2020

[Early diagnosis of a rare disease in children through better communication between parents, physicians and academic centers].

Z Evid Fortbild Qual Gesundhwes 2019 May 14;141-142:18-23. Epub 2019 Mar 14.

Institut und Poliklinik für Allgemeinmedizin, Universitätsklinikum Hamburg-Eppendorf, Hamburg, Deutschland.

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May 2019

Current and Emerging Treatment Strategies for Neuronal Ceroid Lipofuscinoses.

CNS Drugs 2019 04;33(4):315-325

Department of Pediatrics, Section Biochemistry, University Medical Center Eppendorf, Martinistr. 52, 20246, Hamburg, Germany.

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April 2019

Validity of a rapid and simple fluorometric tripeptidyl peptidase 1 (TPP1) assay using dried blood specimens to diagnose CLN2 disease.

Clin Chim Acta 2019 May 13;492:69-71. Epub 2019 Feb 13.

Metabolic Laboratory, Center of Diagnostics, Hamburg, Germany; NCL Clinic, Department of Pediatrics, University Medical Center Eppendorf, Hamburg, Germany. Electronic address:

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May 2019

Autophagic vacuolar myopathy is a common feature of CLN3 disease.

Ann Clin Transl Neurol 2018 Nov 14;5(11):1385-1393. Epub 2018 Oct 14.

Department of Neuropathology Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health Berlin Germany.

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November 2018

Study of Intraventricular Cerliponase Alfa for CLN2 Disease.

N Engl J Med 2018 05 24;378(20):1898-1907. Epub 2018 Apr 24.

From the Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany (A.S., A.K.); BioMarin Pharmaceutical, Novato, CA (T.A., H.C., P.S., D.J.); the Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome (N.S.); Nationwide Children's Hospital and Ohio State University, Columbus (E.L.R.); UCL Great Ormond Street Institute of Child Health, London (P.G.); and the Citigroup Biomedical Imaging Center, Departments of Radiology and Genetic Medicine, Weill Cornell Medical College, New York (D.B., J.P.D.).

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May 2018

Long-term Outcome of Allogeneic Hematopoietic Stem Cell Transplantation in Patients With Juvenile Metachromatic Leukodystrophy Compared With Nontransplanted Control Patients.

JAMA Neurol 2016 09;73(9):1133-40

Department of Pediatric Hematology and Oncology, University Children's Hospital of Tübingen, Tübingen, Germany6Department of Pediatric Hematology and Oncology, University Children's Hospital Hamburg-Eppendorf, Hamburg, Germany.

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September 2016

Metachromatic Leukodystrophy: An Assessment of Disease Burden.

J Child Neurol 2016 11 7;31(13):1457-1463. Epub 2016 Jul 7.

Department of Pediatrics, University Hospital Hamburg-Eppendorf, Hamburg, Germany.

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November 2016

Novel morphological macular findings in juvenile CLN3 disease.

Br J Ophthalmol 2016 06 20;100(6):824-8. Epub 2015 Oct 20.

University Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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June 2016

Reprint of "Ethical issues with artificial nutrition of children with degenerative brain diseases".

Biochim Biophys Acta 2015 Oct 11;1852(10 Pt B):2312-5. Epub 2015 Jun 11.

Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. Electronic address:

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October 2015

Ethical issues with artificial nutrition of children with degenerative brain diseases.

Biochim Biophys Acta 2015 Jul 17;1852(7):1253-6. Epub 2015 Mar 17.

Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. Electronic address:

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July 2015