Kohlschütter A - Search Results

1

Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X).

Sarpong A, Schottmann G, Rüther K, Stoltenburg G, Kohlschütter A, Hübner C, Schuelke M. Sarpong A, et al. Among authors: kohlschutter a. Clin Genet. 2009 Jul;76(1):38-45. doi: 10.1111/j.1399-0004.2009.01179.x. Epub 2009 May 21. Clin Genet. 2009. PMID: 19489875

2

Phenotyping heterozygous carriers of juvenile neuronal ceroid lipofuscinosis with CLN3 mutations.

Bergholz R, Kohlschütter A, Schulz A, Hubert W, Rüther K. Bergholz R, et al. Among authors: kohlschutter a. Graefes Arch Clin Exp Ophthalmol. 2015 Aug;253(8):1245-50. doi: 10.1007/s00417-014-2814-0. Epub 2014 Oct 22. Graefes Arch Clin Exp Ophthalmol. 2015. PMID: 25338278

3

Decreased membrane fluidity of lymphocytes from patients with juvenile neuronal ceroid-lipofuscinosis.

Kohlschütter A, Hübner C, Gärtner J. Kohlschütter A, et al. Am J Med Genet Suppl. 1988;5:203-7. doi: 10.1002/ajmg.1320310623. Am J Med Genet Suppl. 1988. PMID: 3146317

4

[The role of the ophthalmologist in the management of juvenile neuronal ceroid lipofuscinosis].

Rüther K, Gal A, Kohlschütter A. Rüther K, et al. Among authors: kohlschutter a. Klin Monbl Augenheilkd. 2006 Jun;223(6):542-4. doi: 10.1055/s-2005-859019. Klin Monbl Augenheilkd. 2006. PMID: 16804827 German.

5

Low erythrocyte plasmalogen and plasma docosahexaenoic acid (DHA) in juvenile neuronal ceroid-lipofuscinosis (JNCL).

Kohlschütter A, Schade B, Blömer B, Hübner C. Kohlschütter A, et al. J Inherit Metab Dis. 1993;16(2):299-304. doi: 10.1007/BF00710270. J Inherit Metab Dis. 1993. PMID: 8411986 No abstract available.

6

Autophagic vacuolar myopathy is a common feature of CLN3 disease.

Radke J, Koll R, Gill E, Wiese L, Schulz A, Kohlschütter A, Schuelke M, Hagel C, Stenzel W, Goebel HH. Radke J, et al. Among authors: kohlschutter a. Ann Clin Transl Neurol. 2018 Oct 14;5(11):1385-1393. doi: 10.1002/acn3.662. eCollection 2018 Nov. Ann Clin Transl Neurol. 2018. PMID: 30480032 Free PMC article.

7

Urinary alpha-tocopherol metabolites in alpha-tocopherol transfer protein-deficient patients.

Schuelke M, Elsner A, Finckh B, Kohlschütter A, Hübner C, Brigelius-Flohé R. Schuelke M, et al. Among authors: kohlschutter a. J Lipid Res. 2000 Oct;41(10):1543-51. J Lipid Res. 2000. PMID: 11013295 Free article.

8

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

Kohlschütter A, Finckh B, Nickel M, Bley A, Hübner C. Kohlschütter A, et al. Neurodegener Dis. 2020;20(1):35-38. doi: 10.1159/000508080. Epub 2020 Jul 3. Neurodegener Dis. 2020. PMID: 32623435

9

Islet cell antibodies in diabetes mellitus associated with a mitochondrial tRNA(Leu(UUR)) gene mutation.

Oexle K, Oberle J, Finckh B, Kohlschütter A, Nagy M, Seibel P, Seissler J, Hübner C. Oexle K, et al. Among authors: kohlschutter a. Exp Clin Endocrinol Diabetes. 1996;104(3):212-7. doi: 10.1055/s-0029-1211445. Exp Clin Endocrinol Diabetes. 1996. PMID: 8817238

10

Membrane fluidity of nonmuscle cells in Duchenne muscular dystrophy: effect on lymphocyte membranes of incubation in patient and control sera.

Hübner C, Kohlschütter A, Gärtner J. Hübner C, et al. Among authors: kohlschutter a. Pediatr Res. 1987 Oct;22(4):488-92. doi: 10.1203/00006450-198710000-00027. Pediatr Res. 1987. PMID: 3684376

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