Pohl M - Search Results

1

A Homozygous Deletion of Exon 5 of KYNU Resulting from a Maternal Chromosome 2 Isodisomy (UPD2) Causes Catel-Manzke-Syndrome/VCRL Syndrome.

Schüle I, Berger U, Matysiak U, Ruzaike G, Stiller B, Pohl M, Spiekerkoetter U, Lausch E, Grünert SC, Schmidts M. Schüle I, et al. Among authors: pohl m. Genes (Basel). 2021 Jun 7;12(6):879. doi: 10.3390/genes12060879. Genes (Basel). 2021. PMID: 34200361 Free PMC article.

2

Fanconi-Bickel syndrome: GLUT2 mutations associated with a mild phenotype.

Grünert SC, Schwab KO, Pohl M, Sass JO, Santer R. Grünert SC, et al. Among authors: pohl m. Mol Genet Metab. 2012 Mar;105(3):433-7. doi: 10.1016/j.ymgme.2011.11.200. Epub 2011 Dec 8. Mol Genet Metab. 2012. PMID: 22214819

3

D-lactic acidosis: "right-left disorientation" in laboratory testing: acute encephalopathy in a child with carbohydrate malabsorption syndrome.

Grünert S, Schmidts M, Kenzel S, Sass JO, Greiner P, Pohl M, Hentschel R. Grünert S, et al. Among authors: pohl m. J Pediatr Gastroenterol Nutr. 2010 Jan;50(1):106-7. doi: 10.1097/MPG.0b013e3181c48cde. J Pediatr Gastroenterol Nutr. 2010. PMID: 20035183 No abstract available.

4

Kidney-Urinary Tract Involvement in Intermediate Junctional Epidermolysis Bullosa.

Trefzer L, Schwieger-Briel A, Nyström A, Conradt G, Pohl M, Miernik A, Has C. Trefzer L, et al. Among authors: pohl m. JAMA Dermatol. 2022 Sep 1;158(9):1057-1062. doi: 10.1001/jamadermatol.2022.2885. JAMA Dermatol. 2022. PMID: 35921091 Free PMC article.

5

L1CAM mutation in a boy with hydrocephalus and duplex kidneys.

Liebau MC, Gal A, Superti-Furga A, Omran H, Pohl M. Liebau MC, et al. Among authors: pohl m. Pediatr Nephrol. 2007 Jul;22(7):1058-61. doi: 10.1007/s00467-006-0424-8. Epub 2007 Feb 10. Pediatr Nephrol. 2007. PMID: 17294222

6

Autonomous thyroid adenoma: only an adulthood disease?

Schwab KO, Pfarr N, van der Werf-Grohmann N, Pohl M, Rädecke J, Musholt T, Pohlenz J. Schwab KO, et al. Among authors: pohl m. J Pediatr. 2009 Jun;154(6):931-3.e2. doi: 10.1016/j.jpeds.2008.12.019. J Pediatr. 2009. PMID: 19446102

7

Relationship between age at initiation of cysteamine treatment, adherence with therapy, and glomerular kidney function in infantile nephropathic cystinosis.

Nießl C, Boulesteix AL, Oh J, Palm K, Schlingmann P, Wygoda S, Haffner D, Wühl E, Tönshoff B, Buescher A, Billing H, Hoppe B, Zirngibl M, Kettwig M, Moeller K, Acham-Roschitz B, Arbeiter K, Bald M, Benz M, Galiano M, John-Kroegel U, Klaus G, Marx-Berger D, Moser K, Mueller D, Patzer L, Pohl M, Seitz B, Treikauskas U, von Vigier RO, Gahl WA, Hohenfellner K. Nießl C, et al. Among authors: pohl m. Mol Genet Metab. 2022 Aug;136(4):268-273. doi: 10.1016/j.ymgme.2022.06.010. Epub 2022 Jul 2. Mol Genet Metab. 2022. PMID: 35835062 Free PMC article.

8

Ultrasound studies of the intestinal wall in patients with cystic fibrosis.

Pohl M, Krackhardt B, Posselt HG, Lembcke B. Pohl M, et al. J Pediatr Gastroenterol Nutr. 1997 Sep;25(3):317-20. doi: 10.1097/00005176-199709000-00014. J Pediatr Gastroenterol Nutr. 1997. PMID: 9285384

9

Severe metformin intoxication with lactic acidosis in an adolescent.

Lacher M, Hermanns-Clausen M, Haeffner K, Brandis M, Pohl M. Lacher M, et al. Among authors: pohl m. Eur J Pediatr. 2005 Jun;164(6):362-5. doi: 10.1007/s00431-005-1634-y. Epub 2005 Feb 24. Eur J Pediatr. 2005. PMID: 15729560

10

Differentiation of EBV-induced post-transplant Hodgkin lymphoma from Hodgkin-like post-transplant lymphoproliferative disease.

Rohr JC, Wagner HJ, Lauten M, Wacker HH, Jüttner E, Hanke C, Pohl M, Niemeyer CM. Rohr JC, et al. Among authors: pohl m. Pediatr Transplant. 2008 Jun;12(4):426-31. doi: 10.1111/j.1399-3046.2007.00816.x. Pediatr Transplant. 2008. PMID: 18466428

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

915 results

Search Page