PubMed for id: 1890272360

Year	Number of Results
1991	1
1992	3
1993	1
2005	1
2020	2
2021	3
2022	1
2024	1

1

Two Novel Hydroxymethylbilane Synthase Splicing Mutations Predispose to Acute Intermittent Porphyria.

Zhang Y, Xiao H, Xiong Q, Wu C, Li P. Zhang Y, et al. Int J Mol Sci. 2021 Oct 12;22(20):11008. doi: 10.3390/ijms222011008. Int J Mol Sci. 2021. PMID: 34681668 Free PMC article.

2

Identification and molecular analysis of 17 novel variants of hydroxymethylbilane synthase in Chinese patients with acute intermittent porphyria.

Hu Y, Li W, Kang N, Ma L, Teng Q, Mo G, Wu J, Wang X, Bi R, Zhang S. Hu Y, et al. Clin Genet. 2022 Jan;101(1):116-121. doi: 10.1111/cge.14063. Epub 2021 Sep 24. Clin Genet. 2022. PMID: 34523126

3

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

4

Brain ventricular enlargement in human and murine acute intermittent porphyria.

Jericó D, Luis EO, Cussó L, Fernández-Seara MA, Morales X, Córdoba KM, Benito M, Sampedro A, Larriva M, Ramírez MJ, de Salamanca RE, Ortiz-de-Solorzano C, Alegre M, Prieto J, Lanciego JL, D'Avola D, González-Aseguinolaza G, Pastor MA, Desco M, Fontanellas A. Jericó D, et al. Hum Mol Genet. 2020 Nov 25;29(19):3211-3223. doi: 10.1093/hmg/ddaa204. Hum Mol Genet. 2020. PMID: 32916704

5

Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains.

Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro MA, Sharan R, Wanker EE. Haenig C, et al. Cell Rep. 2020 Aug 18;32(7):108050. doi: 10.1016/j.celrep.2020.108050. Cell Rep. 2020. PMID: 32814053 Free article.

6

Acute Intermittent Porphyria.

Sardh E, Barbaro M. Sardh E, et al. 2005 Sep 27 [updated 2024 Feb 8]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2005 Sep 27 [updated 2024 Feb 8]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301372 Free Books & Documents. Review.

7

Molecular heterogeneity of acute intermittent porphyria: identification of four additional mutations resulting in the CRIM-negative subtype of the disease.

Delfau MH, Picat C, De Rooij F, Voortman G, Deybach JC, Nordmann Y, Grandchamp B. Delfau MH, et al. Am J Hum Genet. 1991 Aug;49(2):421-8. Am J Hum Genet. 1991. PMID: 1714233 Free PMC article.

8

High frequency of mutations in exon 10 of the porphobilinogen deaminase gene in patients with a CRIM-positive subtype of acute intermittent porphyria.

Gu XF, de Rooij F, Voortman G, Te Velde K, Nordmann Y, Grandchamp B. Gu XF, et al. Am J Hum Genet. 1992 Sep;51(3):660-5. Am J Hum Genet. 1992. PMID: 1496994 Free PMC article.

9

Detection of seven point mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria, by direct sequencing of in vitro amplified cDNA.

Mgone CS, Lanyon WG, Moore MR, Connor JM. Mgone CS, et al. Hum Genet. 1992 Sep-Oct;90(1-2):12-6. doi: 10.1007/BF00210738. Hum Genet. 1992. PMID: 1427766

10

CRIM-positive mutations of acute intermittent porphyria in Finland.

Kauppinen R, Peltonen L, Pihlaja H, Mustajoki P. Kauppinen R, et al. Hum Mutat. 1992;1(5):392-6. doi: 10.1002/humu.1380010508. Hum Mutat. 1992. PMID: 1301948

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