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Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy.
Am J Hum Genet. 2015 Jul 2;97(1):163-9. doi: 10.1016/j.ajhg.2015.05.009. Epub 2015 Jun 11.
Am J Hum Genet. 2015.
PMID: 26073778
Free PMC article.
Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts.
Staufner C, Haack TB, Köpke MG, Straub BK, Kölker S, Thiel C, Freisinger P, Baric I, McKiernan PJ, Dikow N, Harting I, Beisse F, Burgard P, Kotzaeridou U, Lenz D, Kühr J, Himbert U, Taylor RW, Distelmaier F, Vockley J, Ghaloul-Gonzalez L, Ozolek JA, Zschocke J, Kuster A, Dick A, Das AM, Wieland T, Terrile C, Strom TM, Meitinger T, Prokisch H, Hoffmann GF.
Staufner C, et al. Among authors: himbert u.
J Inherit Metab Dis. 2016 Jan;39(1):3-16. doi: 10.1007/s10545-015-9896-7. Epub 2015 Nov 5.
J Inherit Metab Dis. 2016.
PMID: 26541327
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A case of Perlman syndrome: fetal gigantism, renal dysplasia, and severe neurological deficits.
Schilke K, Schaefer F, Waldherr R, Rohrschneider W, John C, Himbert U, Mayatepek E, Tariverdian G.
Schilke K, et al. Among authors: himbert u.
Am J Med Genet. 2000 Mar 6;91(1):29-33. doi: 10.1002/(sici)1096-8628(20000306)91:1<29::aid-ajmg5>3.0.co;2-u.
Am J Med Genet. 2000.
PMID: 10751085
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Clinical symptoms, biochemical studies and therapeutic approaches in a sibship with a new congenital tubulopathy.
Meyburg J, Mayatepek E, Riester U, Himbert U, Zilow EP, Hilgenfeldt U, Bremer HJ, Linderkamp O.
Meyburg J, et al. Among authors: himbert u.
Eur J Pediatr. 1999 Aug;158(8):673-8. doi: 10.1007/s004310051174.
Eur J Pediatr. 1999.
PMID: 10445349
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Hepatic failure with neonatal tissue siderosis of hemochromatotic type in an infant presenting with meconium ileus. Case report and differential diagnosis of the perinatal iron storage disorders.
Sergi C, Himbert U, Weinhardt F, Heilmann W, Meyer P, Beedgen B, Zilow E, Hofmann WJ, Linderkamp O, Otto HF.
Sergi C, et al. Among authors: himbert u.
Pathol Res Pract. 2001;197(10):699-709; discussion 711-3. doi: 10.1078/0344-0338-00148.
Pathol Res Pract. 2001.
PMID: 11700892
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Multiple brain abscesses in an extremely preterm infant: treatment surveillance with interleukin-6 in the CSF.
Heep A, Schaller C, Rittmann N, Himbert U, Marklein G, Bartmann P.
Heep A, et al. Among authors: himbert u.
Eur J Pediatr. 2004 Jan;163(1):44-5. doi: 10.1007/s00431-003-1333-5. Epub 2003 Oct 29.
Eur J Pediatr. 2004.
PMID: 14586650
No abstract available.
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Diuretic and hormonal responses to head-out water immersion in nephrotic syndrome.
Rascher W, Tulassay T, Seyberth HW, Himbert U, Lang U, Schärer K.
Rascher W, et al. Among authors: himbert u.
J Pediatr. 1986 Oct;109(4):609-14. doi: 10.1016/s0022-3476(86)80222-0.
J Pediatr. 1986.
PMID: 3761074
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Successful mucolysis in pertussis using bronchoscopically applied dornase alfa.
Eifinger F, Welzing L, Lange L, Rietschel E, Himbert U.
Eifinger F, et al. Among authors: himbert u.
Pediatr Pulmonol. 2008 Mar;43(3):305-6. doi: 10.1002/ppul.20762.
Pediatr Pulmonol. 2008.
PMID: 18219692
No abstract available.
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