Similar articles for PMID: 34089223

Year	Number of Results
1992	1
1994	1
1995	1
1996	1
1997	3
1998	3
1999	4
2000	7
2001	3
2002	3
2003	1
2004	6
2005	1
2006	4
2007	3
2008	4
2009	9
2010	5
2011	1
2012	2
2013	4
2014	2
2015	8
2016	5
2017	2
2018	6
2019	11
2020	9
2021	11
2022	20
2023	9
2024	0

1

Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations.

Stutterd CA, Kidd A, Florkowski C, Janus E, Fanjul M, Raizis A, Wu TY, Archer J, Leventer RJ, Amor DJ, Lukic V, Bahlo M, Gow P, Lockhart PJ, van der Knaap MS, Delatycki MB. Stutterd CA, et al. Am J Med Genet A. 2021 Oct;185(10):2941-2950. doi: 10.1002/ajmg.a.62377. Epub 2021 Jun 4. Am J Med Genet A. 2021. PMID: 34089223

2

Acute intermittent porphyria-related leukoencephalopathy.

Kevelam SH, Neeleman RA, Waisfisz Q, Friesema EC, Langendonk JG, van der Knaap MS. Kevelam SH, et al. Neurology. 2016 Sep 20;87(12):1258-65. doi: 10.1212/WNL.0000000000003129. Epub 2016 Aug 24. Neurology. 2016. PMID: 27558376

3

Homozygous hydroxymethylbilane synthase knock-in mice provide pathogenic insights into the severe neurological impairments present in human homozygous dominant acute intermittent porphyria.

Yasuda M, Gan L, Chen B, Yu C, Zhang J, Gama-Sosa MA, Pollak DD, Berger S, Phillips JD, Edelmann W, Desnick RJ. Yasuda M, et al. Hum Mol Genet. 2019 Jun 1;28(11):1755-1767. doi: 10.1093/hmg/ddz003. Hum Mol Genet. 2019. PMID: 30615115 Free PMC article.

4

Severe hydroxymethylbilane synthase deficiency causes depression-like behavior and mitochondrial dysfunction in a mouse model of homozygous dominant acute intermittent porphyria.

Berger S, Stattmann M, Cicvaric A, Monje FJ, Coiro P, Hotka M, Ricken G, Hainfellner J, Greber-Platzer S, Yasuda M, Desnick RJ, Pollak DD. Berger S, et al. Acta Neuropathol Commun. 2020 Mar 20;8(1):38. doi: 10.1186/s40478-020-00910-z. Acta Neuropathol Commun. 2020. PMID: 32197664 Free PMC article.

5

A novel heterozygous mutation in the HMBS gene in a patient with acute intermittent porphyria and posterior reversible encephalopathy syndrome.

Yang Y, Chen X, Wu H, Peng H, Sun W, He B, Yuan Z. Yang Y, et al. Mol Med Rep. 2020 Jul;22(1):516-524. doi: 10.3892/mmr.2020.11117. Epub 2020 May 4. Mol Med Rep. 2020. PMID: 32377710 Free PMC article.

6

Identification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyria.

Chen B, Solis-Villa C, Erwin AL, Balwani M, Nazarenko I, Phillips JD, Desnick RJ, Yasuda M. Chen B, et al. J Inherit Metab Dis. 2019 Jan;42(1):186-194. doi: 10.1002/jimd.12040. J Inherit Metab Dis. 2019. PMID: 30740734 Free PMC article.

7

Bi-allelic hydroxymethylbilane synthase inactivation defines a homogenous clinico-molecular subtype of hepatocellular carcinoma.

Molina L, Zhu J, Trépo E, Bayard Q, Amaddeo G; GENTHEP Consortium; Blanc JF, Calderaro J, Ma X, Zucman-Rossi J, Letouzé E. Molina L, et al. J Hepatol. 2022 Oct;77(4):1038-1046. doi: 10.1016/j.jhep.2022.05.018. Epub 2022 May 27. J Hepatol. 2022. PMID: 35636578 Free PMC article.

8

Novel A219P mutation of hydroxymethylbilane synthase identified in a Chinese woman with acute intermittent porphyria and syndrome of inappropriate antidiuretic hormone.

Li Y, Qu H, Wang H, Deng H, Liu Z. Li Y, et al. Ann Hum Genet. 2015 Jul;79(4):310-2. doi: 10.1111/ahg.12107. Epub 2015 Mar 18. Ann Hum Genet. 2015. PMID: 25787008

9

Molecular characterization, by digital PCR analysis of four HMBS gene mutations affecting the ubiquitous isoform of Porphobilinogen Deaminase (PBGD) in patients with Acute Intermittent Porphyria (AIP).

Granata F, Mendez M, Brancaleoni V, Castelbon FJ, Graziadei G, Ventura P, Di Pierro E. Granata F, et al. Mol Genet Metab. 2018 Nov;125(3):295-301. doi: 10.1016/j.ymgme.2018.09.002. Epub 2018 Sep 5. Mol Genet Metab. 2018. PMID: 30201327

10

Correlation between biochemical findings, structural and enzymatic abnormalities in mutated HMBS identified in six Israeli families with acute intermittent porphyria.

Ulbrichova D, Schneider-Yin X, Mamet R, Saudek V, Martasek P, Minder EI, Schoenfeld N. Ulbrichova D, et al. Blood Cells Mol Dis. 2009 Mar-Apr;42(2):167-73. doi: 10.1016/j.bcmd.2008.11.001. Epub 2009 Jan 12. Blood Cells Mol Dis. 2009. PMID: 19138865

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

Results by year

Text availability

Article attribute

Article type

Publication date

136 results

Results by year