MITTELDEUTSCHES KOMPETENZNETZ SELTENE ERKRANKUNGEN

Publikationen

2015 - 2021

Ali, S. R., Bryce, J., Haghpanahan, H., Lewsey, J. D., Tan, L. E., Atapattu, N., . . . Ahmed, S. F. (2021). Real-World Estimates of Adrenal Insufficiency-Related Adverse Events in Children With Congenital Adrenal Hyperplasia. J Clin Endocrinol Metab, 106(1), e192-e203. doi:10.1210/clinem/dgaa694

Banerjee, I., Senniappan, S., Laver, T. W., Caswell, R., Zenker, M., Mohnike, K., . . . Flanagan, S. E. (2019). Refinement of the critical genomic region for congenital hyperinsulinism in the Chromosome 9p deletion syndrome. Wellcome Open Res, 4, 149. doi:10.12688/wellcomeopenres.15465.2

Barthlen, W., Varol, E., Empting, S., Wieland, I., Zenker, M., Mohnike, W., . . . Mohnike, K. (2016). Surgery in Focal Congenital Hyperinsulinism (CHI) - The "Hyperinsulinism Germany International" Experience in 30 Children. Pediatr Endocrinol Rev, 14(2), 129-137. doi:10.17458/PER.2016.BVE.Surgeryinfocal

Becker, S., Rohnike, S., Empting, S., Haas, D., Mohnike, K., Beblo, S., . . . Ceglarek, U. (2015). LC-MS/MS-based quantification of cholesterol and related metabolites in dried blood for the screening of inborn errors of sterol metabolism. Anal Bioanal Chem, 407(17), 5227-5233. doi:10.1007/s00216-015-8731-1

Bloemeke, J., Sommer, R., Witt, S., Bullinger, M., Nordon, C., Badia, F. J., . . . Quitmann, J. (2019). Cross-cultural selection and validation of instruments to assess patient-reported outcomes in children and adolescents with achondroplasia. Qual Life Res, 28(9), 2553-2563. doi:10.1007/s11136-019-02210-z

Bonfig, W., Roehl, F., Riedl, S., Bramswig, J., Richter-Unruh, A., Fricke-Otto, S., . . . Mohnike, K. (2018). Sodium Chloride Supplementation Is Not Routinely Performed in the Majority of German and Austrian Infants with Classic Salt-Wasting Congenital Adrenal Hyperplasia and Has No Effect on Linear Growth and Hydrocortisone or Fludrocortisone Dose. Hormone research in paediatrics, 89(1), 7-12. doi:10.1159/000481775

Bonfig, W., Roehl, F. W., Riedl, S., Dorr, H. G., Bettendorf, M., Bramswig, J., . . . Group, A. C. S. (2016). Blood Pressure in a Large Cohort of Children and Adolescents With Classic Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency. Am J Hypertens, 29(2), 266-272. doi:10.1093/ajh/hpv087

Cagnoli, M., Richter, R., Bohm, P., Knye, K., Empting, S., & Mohnike, K. (2017). Spontaneous Growth and Effect of Early Therapy with Calcitriol and Phosphate in X-linked Hypophosphatemic Rickets. Pediatr Endocrinol Rev, 15(Suppl 1), 119-122. doi:10.17458/per.vol15.2017.crb.spontaneousgrowtheffect

Ellerbroek, V. L., Bonfig, W., Dorr, H. G., Bettendorf, M., Hauffa, B., Fricke-Otto, S., . . . Holl, R. W. (2015). Long-term Surveillance of Children with Congenital Hypothyroidism: Data from the German Registry for Congenital Hypothyroidism (AQUAPE "Hypo Dok"). Klin Padiatr, 227(4), 199-205. doi:10.1055/s-0035-1549978

Krull, S., Rissmann, A., Krause, H., Mohnike, K., Roehl, F. W., Koehn, A., & Hass, H. J. (2018). Outcome after Hypospadias Repair: Evaluation Using the Hypospadias Objective Penile Evaluation Score. European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie, 28(3), 268-272. doi:10.1055/s-0037-1602252

Ludwig, A., Enke, S., Heindorf, J., Empting, S., Meissner, T., & Mohnike, K. (2018). Formal Neurocognitive Testing in 60 Patients with Congenital Hyperinsulinism. Hormone research in paediatrics, 89(1), 1-6. doi:10.1159/000481774

Makov, M., Chodick, G., Mohnike, K., Otonkoski, T., Huopio, H., Banerjee, I., . . . Laron, Z. (2015). Congenital hyperinsulinism, neonatal diabetes and the risk of malignancies: an international collaborative study. Preliminary communication. Diabetic medicine : a journal of the British Diabetic Association, 32(5), 701-703. doi:10.1111/dme.12670

Mohnike, K. (2016). Exceedingly Rare. Deutsches Arzteblatt international, 113(27-28), 487. doi:10.3238/arztebl.2016.0487b

Papathemeli, D., Mohnike, K., & Ambach, A. (2015). Multiple Polycyclic Brownish to Reddish Macules on the Skin in an Infant. JAMA Dermatol, 151(11), 1249-1250. doi:10.1001/jamadermatol.2015.2469

Quitmann, J., Bloemeke, J., Silva, N., Bullinger, M., Witt, S., Akkurt, I., . . . Dorr, H. G. (2019). Quality of Life of Short-Statured Children Born Small for Gestational Age or Idiopathic Growth Hormone Deficiency Within 1 Year of Growth Hormone Treatment. Front Pediatr, 7, 164. doi:10.3389/fped.2019.00164

Riedl, S., Rohl, F. W., Bonfig, W., Bramswig, J., Richter-Unruh, A., Fricke-Otto, S., . . . Group, A. C. S. (2019). Genotype/phenotype correlations in 538 congenital adrenal hyperplasia patients from Germany and Austria: discordances in milder genotypes and in screened versus prescreening patients. Endocr Connect, 8(2), 86-94. doi:10.1530/EC-18-0281

Shima, H., Koehler, K., Nomura, Y., Sugimoto, K., Satoh, A., Ogata, T., . . . Narumi, S. (2018). Two patients with MIRAGE syndrome lacking haematological features: role of somatic second-site reversion SAMD9 mutations. J Med Genet, 55(2), 81-85. doi:10.1136/jmedgenet-2017-105020

Tatsi, C., Gkourogianni, A., Mohnike, K., DeArment, D., Witchel, S., Andrade, A. C., . . . Jee, Y. H. (2017). Aggrecan Mutations in Nonfamilial Short Stature and Short Stature Without Accelerated Skeletal Maturation. J Endocr Soc, 1(8), 1006-1011. doi:10.1210/js.2017-00229

Thiele, A. G., Gausche, R., Lindenberg, C., Beger, C., Arelin, M., Rohde, C., . . . Beblo, S. (2017). Growth and Final Height Among Children With Phenylketonuria. Pediatrics, 140(5). doi:10.1542/peds.2017-0015

van der Steen, I., van Albada, M. E., Mohnike, K., Christesen, H. T., Empting, S., Salomon-Estebanez, M., . . . Boot, A. M. (2018). A Multicenter Experience with Long-Acting Somatostatin Analogues in Patients with Congenital Hyperinsulinism. Hormone research in paediatrics, 89(2), 82-89. doi:10.1159/000485184

Welters, A., Meissner, T., Grulich-Henn, J., Frohlich-Reiterer, E., Warncke, K., Mohnike, K., . . . Holl, R. W. (2018). Characterization of diabetes following pancreatic surgery in patients with congenital hyperinsulinism. Orphanet J Rare Dis, 13(1), 230. doi:10.1186/s13023-018-0970-8

Wieacker, I., Peter, M., Borucki, K., Empting, S., Roehl, F. W., & Mohnike, K. (2015). Therapy monitoring in congenital adrenal hyperplasia by dried blood samples. J Pediatr Endocrinol Metab, 28(7-8), 867-871. doi:10.1515/jpem-2014-0303

Yau, D., Marwaha, R., Mohnike, K., Sajjan, R., Empting, S., Craigie, R. J., . . . Banerjee, I. (2020). Case report: contradictory genetics and imaging in focal congenital hyperinsulinism reinforces the need for pancreatic biopsy. Int J Pediatr Endocrinol, 2020, 17. doi:10.1186/s13633-020-00086-2

Letzte Änderung: 16.03.2021 - Ansprechpartner:

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