Huebner A - Search Results

1

Three children with triple A syndrome due to a mutation (R478X) in the AAAS gene.

Yuksel B, Braun R, Topaloglu AK, Mungan NO, Ozer G, Huebner A. Yuksel B, et al. Among authors: huebner a. Horm Res. 2004;61(1):3-6. doi: 10.1159/000075190. Epub 2003 Nov 27. Horm Res. 2004. PMID: 14646395

2

Clinical and novel molecular findings in a 6.8-year-old Turkish boy with triple A syndrome.

Schmittmann-Ohters K, Huebner A, Richter-Unruh A, Hauffa BP. Schmittmann-Ohters K, et al. Among authors: huebner a. Horm Res. 2001;56(1-2):67-72. doi: 10.1159/000048093. Horm Res. 2001. PMID: 11815731

3

New insights into the molecular basis of the triple A syndrome.

Huebner A, Kaindl AM, Braun R, Handschug K. Huebner A, et al. Endocr Res. 2002 Nov;28(4):733-9. doi: 10.1081/erc-120016998. Endocr Res. 2002. PMID: 12530689

4

A novel AAAS gene mutation (p.R194X) in a patient with triple A syndrome.

Dusek T, Korsic M, Koehler K, Perkovic Z, Huebner A, Korsic M. Dusek T, et al. Among authors: huebner a. Horm Res. 2006;65(4):171-6. doi: 10.1159/000092003. Epub 2006 Mar 15. Horm Res. 2006. PMID: 16543750

5

Late-onset triple A syndrome: a risk of overlooked or delayed diagnosis and management.

Salmaggi A, Zirilli L, Pantaleoni C, De Joanna G, Del Sorbo F, Koehler K, Krumbholz M, Huebner A, Rochira V. Salmaggi A, et al. Among authors: huebner a. Horm Res. 2008;70(6):364-72. doi: 10.1159/000161867. Epub 2008 Oct 27. Horm Res. 2008. PMID: 18953174 Review.

6

Two patients with an identical novel mutation in the AAAS gene and similar phenotype of triple A (Allgrove) syndrome.

Krull I, M-Woelfle M, Bärlocher K, Koehler K, Huebner A, Brändle M. Krull I, et al. Among authors: huebner a. Exp Clin Endocrinol Diabetes. 2010 Aug;118(8):530-6. doi: 10.1055/s-0030-1247516. Epub 2010 Mar 3. Exp Clin Endocrinol Diabetes. 2010. PMID: 20200814

7

Two siblings with triple A syndrome and novel mutation presenting as hereditary polyneuropathy.

Dumić M, Barišić N, Rojnić-Putarek N, Kušec V, Stanimirović A, Koehler K, Huebner A. Dumić M, et al. Among authors: huebner a. Eur J Pediatr. 2011 Mar;170(3):393-6. doi: 10.1007/s00431-010-1314-4. Epub 2010 Oct 8. Eur J Pediatr. 2011. PMID: 20931227

8

Triple A Syndrome: Preliminary Response to the Antioxidant N-Acetylcysteine Treatment in a Child.

Fragoso MCBV, Albuquerque EVA, Cardoso ALA, da Rosa PWL, de Paulo RB, Schimizu MHM, Seguro AC, Passarelli M, Koehler K, Huebner A, Almeida MQ, Latronico AC, Arnhold IJP, Mendonca BB. Fragoso MCBV, et al. Among authors: huebner a. Horm Res Paediatr. 2017;88(2):167-171. doi: 10.1159/000465520. Epub 2017 Apr 10. Horm Res Paediatr. 2017. PMID: 28395280

9

Homozygous deletion of the entire AAAS gene in a triple A syndrome patient.

Koehler K, Hackmann K, Landgraf D, Schubert T, Shakiba M, Kariminejad A, Huebner A. Koehler K, et al. Among authors: huebner a. Eur J Med Genet. 2019 Jul;62(7):103665. doi: 10.1016/j.ejmg.2019.05.004. Epub 2019 May 6. Eur J Med Genet. 2019. PMID: 31071487

10

Very early and severe presentation of Triple A syndrome - case report and review of the literature.

Cehic M, Mitrovic K, Vukovic R, Milenkovic T, Kovacevic G, Todorovic S, Panic Zaric S, Cvetkovic D, Paripovic A, Huebner A, Koehler K, Quitter F. Cehic M, et al. Among authors: huebner a. Front Endocrinol (Lausanne). 2024 Sep 24;15:1431383. doi: 10.3389/fendo.2024.1431383. eCollection 2024. Front Endocrinol (Lausanne). 2024. PMID: 39387047 Free PMC article. Review.

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