Kohlschütter A - Search Results

1

The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe.

Santer R, Rischewski J, von Weihe M, Niederhaus M, Schneppenheim S, Baerlocher K, Kohlschütter A, Muntau A, Posselt HG, Steinmann B, Schneppenheim R. Santer R, et al. Among authors: kohlschutter a. Hum Mutat. 2005 Jun;25(6):594. doi: 10.1002/humu.9343. Hum Mutat. 2005. PMID: 15880727

2

Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease.

Hübner CA, Orth U, Senning A, Steglich C, Kohlschütter A, Korinthenberg R, Gal A. Hübner CA, et al. Among authors: kohlschutter a. Hum Mutat. 2005 Mar;25(3):321-2. doi: 10.1002/humu.9314. Hum Mutat. 2005. PMID: 15712223

3

A child with night blindness: preventing serious symptoms of Refsum disease.

Kohlschütter A, Santer R, Lukacs Z, Altenburg C, Kemper MJ, Rüther K. Kohlschütter A, et al. J Child Neurol. 2012 May;27(5):654-6. doi: 10.1177/0883073811424799. Epub 2011 Dec 7. J Child Neurol. 2012. PMID: 22156782

4

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

Lukacs Z, Nickel M, Murko S, Nieves Cobos P, Schulz A, Santer R, Kohlschütter A. Lukacs Z, et al. Among authors: kohlschutter a. Clin Chim Acta. 2019 May;492:69-71. doi: 10.1016/j.cca.2019.02.010. Epub 2019 Feb 13. Clin Chim Acta. 2019. PMID: 30771299

5

Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1.

Finckh U, Kohlschütter A, Schäfer H, Sperhake K, Colombo JP, Gal A. Finckh U, et al. Among authors: kohlschutter a. Hum Mutat. 1998;12(3):206-11. doi: 10.1002/(SICI)1098-1004(1998)12:3<206::AID-HUMU8>3.0.CO;2-E. Hum Mutat. 1998. PMID: 9711878

6

Ehlers-Danlos Syndrome Type VI (EDS VI): problems of diagnosis and management.

Heim P, Raghunath M, Meiss L, Heise U, Myllylä R, Kohlschütter A, Steinmann B. Heim P, et al. Among authors: kohlschutter a. Acta Paediatr. 1998 Jun;87(6):708-10. doi: 10.1080/080352598750014184. Acta Paediatr. 1998. PMID: 9686670

7

Identification of ten novel mutations in patients with eIF2B-related disorders.

Ohlenbusch A, Henneke M, Brockmann K, Goerg M, Hanefeld F, Kohlschütter A, Gärtner J. Ohlenbusch A, et al. Among authors: kohlschutter a. Hum Mutat. 2005 Apr;25(4):411. doi: 10.1002/humu.9325. Hum Mutat. 2005. PMID: 15776425

8

Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship.

Lebrun AH, Storch S, Rüschendorf F, Schmiedt ML, Kyttälä A, Mole SE, Kitzmüller C, Saar K, Mewasingh LD, Boda V, Kohlschütter A, Ullrich K, Braulke T, Schulz A. Lebrun AH, et al. Among authors: kohlschutter a. Hum Mutat. 2009 May;30(5):E651-61. doi: 10.1002/humu.21010. Hum Mutat. 2009. PMID: 19309691

9

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

Groeschel S, Kühl JS, Bley AE, Kehrer C, Weschke B, Döring M, Böhringer J, Schrum J, Santer R, Kohlschütter A, Krägeloh-Mann I, Müller I. Groeschel S, et al. Among authors: kohlschutter a. JAMA Neurol. 2016 Sep 1;73(9):1133-40. doi: 10.1001/jamaneurol.2016.2067. JAMA Neurol. 2016. PMID: 27400410

10

Sequence diversity of KIAA0027/MLC1: are megalencephalic leukoencephalopathy and schizophrenia allelic disorders?

Rubie C, Lichtner P, Gärtner J, Siekiera M, Uziel G, Kohlmann B, Kohlschütter A, Meitinger T, Stöber G, Bettecken T. Rubie C, et al. Among authors: kohlschutter a. Hum Mutat. 2003 Jan;21(1):45-52. doi: 10.1002/humu.10145. Hum Mutat. 2003. PMID: 12497630

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