Reunert J - Search Results

1

Hypertransaminasemia and liver fibrosis associated with haptoglobin retention and anhaptoglobinemia in a paediatric patient.

Gunzer S, Kraus A, Buchroth I, Grüneberg M, Westermann C, Biskup S, Reunert J, Grünewald I, Marquardt T. Gunzer S, et al. Among authors: reunert j. Liver Int. 2021 Oct;41(10):2427-2432. doi: 10.1111/liv.15029. Epub 2021 Aug 16. Liver Int. 2021. PMID: 34358398

2

Novel ALG8 mutations expand the clinical spectrum of congenital disorder of glycosylation type Ih.

Stölting T, Omran H, Erlekotte A, Denecke J, Reunert J, Marquardt T. Stölting T, et al. Among authors: reunert j. Mol Genet Metab. 2009 Nov;98(3):305-9. doi: 10.1016/j.ymgme.2009.06.010. Epub 2009 Jun 24. Mol Genet Metab. 2009. PMID: 19648040

3

The novel transferrin E592A variant impairs the diagnostics of congenital disorders of glycosylation.

Park JH, Zühlsdorf A, Wada Y, Roll C, Rust S, Du Chesne I, Grüneberg M, Reunert J, Marquardt T. Park JH, et al. Among authors: reunert j. Clin Chim Acta. 2014 Sep 25;436:135-9. doi: 10.1016/j.cca.2014.05.011. Epub 2014 May 26. Clin Chim Acta. 2014. PMID: 24875750

4

Transferrin variants: pitfalls in the diagnostics of Congenital disorders of glycosylation.

Zühlsdorf A, Park JH, Wada Y, Rust S, Reunert J, DuChesne I, Grüneberg M, Marquardt T. Zühlsdorf A, et al. Among authors: reunert j. Clin Biochem. 2015 Jan;48(1-2):11-3. doi: 10.1016/j.clinbiochem.2014.09.022. Epub 2014 Oct 8. Clin Biochem. 2015. PMID: 25305627

5

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

Reunert J, Lotz-Havla AS, Polo G, Kannenberg F, Fobker M, Griese M, Mengel E, Muntau AC, Schnabel P, Sommerburg O, Borggraefe I, Dardis A, Burlina AP, Mall MA, Ciana G, Bembi B, Burlina AB, Marquardt T. Reunert J, et al. JIMD Rep. 2015;23:17-26. doi: 10.1007/8904_2015_423. Epub 2015 Mar 13. JIMD Rep. 2015. PMID: 25772320 Free PMC article.

6

A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach.

Dörre K, Olczak M, Wada Y, Sosicka P, Grüneberg M, Reunert J, Kurlemann G, Fiedler B, Biskup S, Hörtnagel K, Rust S, Marquardt T. Dörre K, et al. Among authors: reunert j. J Inherit Metab Dis. 2015 Sep;38(5):931-40. doi: 10.1007/s10545-015-9828-6. Epub 2015 Mar 17. J Inherit Metab Dis. 2015. PMID: 25778940

7

Congenital nephrotic syndrome with dysmorphic features and death in early infancy: Questions.

Park JH, Weissensteiner M, Wagner O, Wada Y, Rust S, Reunert J, Marquardt T. Park JH, et al. Among authors: reunert j. Pediatr Nephrol. 2016 Aug;31(8):1281. doi: 10.1007/s00467-015-3071-0. Epub 2015 May 7. Pediatr Nephrol. 2016. PMID: 25947087 No abstract available.

8

Congenital nephrotic syndrome with dysmorphic features and death in early infancy: Answers.

Park JH, Weissensteiner M, Wagner O, Wada Y, Rust S, Reunert J, Marquardt T. Park JH, et al. Among authors: reunert j. Pediatr Nephrol. 2016 Aug;31(8):1283-6. doi: 10.1007/s00467-015-3070-1. Epub 2015 May 9. Pediatr Nephrol. 2016. PMID: 25956699 No abstract available.

9

TMEM165 Deficiency: Postnatal Changes in Glycosylation.

Schulte Althoff S, Grüneberg M, Reunert J, Park JH, Rust S, Mühlhausen C, Wada Y, Santer R, Marquardt T. Schulte Althoff S, et al. Among authors: reunert j. JIMD Rep. 2016;26:21-9. doi: 10.1007/8904_2015_455. Epub 2015 Aug 4. JIMD Rep. 2016. PMID: 26238249 Free PMC article.

10

News on Clinical Details and Treatment in PGM1-CDG.

Schrapers E, Tegtmeyer LC, Simic-Schleicher G, Debus V, Reunert J, Balbach S, Klingel K, Du Chesne I, Seelhöfer A, Fobker M, Marquardt T, Rust S. Schrapers E, et al. Among authors: reunert j. JIMD Rep. 2016;26:77-84. doi: 10.1007/8904_2015_471. Epub 2015 Aug 25. JIMD Rep. 2016. PMID: 26303607 Free PMC article.

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