Incidence and prevalence of 121 rare diseases in China: Current status and challenges: 2022 revision

Lu Y, Gao Q, Ren X, Li J, Yang D, Zhang Z, Han J

Intractable Rare Dis Res. 2022; 11(3):96-104.

DOI: 10.5582/irdr.2022.01093

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Anterior cervical discectomy and fusion without plate (ACDFWP) versus anterior cervical disc arthroplasty (ACDA) for cervical spondylosis: A meta-analysis and literature review

Peng J, Li S, Lin X, Zhong D, Zheng R, Huang M, Li P, Song H, Asakawa T

Intractable Rare Dis Res. 2022; 11(3):105-112.

DOI: 10.5582/irdr.2022.01080

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Smooth muscle motility disorder phenotypes: A systematic review of cases associated with seven pathogenic genes (ACTG2, MYH11, FLNA, MYLK, RAD21, MYL9 and LMOD1)

Fournier N, Fabre A

Intractable Rare Dis Res. 2022; 11(3):113-119.

DOI: 10.5582/irdr.2022.01060

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Need for revision of the ACMG/AMP guidelines for interpretation of X-linked variants

Inoue Y, Machida O, Kita Y, Yamamoto T

Intractable Rare Dis Res. 2022; 11(3):120-124.

DOI: 10.5582/irdr.2022.01067

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Knowledge and perception of inborn errors of metabolism (IEMs) among healthcare students at a selected public university in Klang Valley, Malaysia

Liew SH, Lim JY, Yahya HM, Rajikan R

Intractable Rare Dis Res. 2022; 11(3):125-132.

DOI: 10.5582/irdr.2022.01062

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Identification of potential core genes and miRNAs in pediatric ACC via bioinformatics analysis

Fang C, Ye Y, Wang F, Shen Y, You Y

Intractable Rare Dis Res. 2022; 11(3):133-142.

DOI: 10.5582/irdr.2022.01077

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Interstitial deletions in the proximal regions of 6q: 12 original cases and a literature review

Machida O, Yamamoto Shimojima K, Shiihara T, Akamine S, Kira R, Hasegawa Y, Nishi E, Okamoto N, Nagata S, Yamamoto T

Intractable Rare Dis Res. 2022; 11(3):143-148.

DOI: 10.5582/irdr.2022.01065

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When LUCA met gnomAD: genetic constraints on universal genes in humans

Fabre A, Mancini J

Intractable Rare Dis Res. 2022; 11(3):149-152.

DOI: 10.5582/irdr.2022.01063

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Attention should be paid to acute hepatitis of unknown etiology in children

Chen GB, Lu HZ

Intractable Rare Dis Res. 2022; 11(3):153-157.

DOI: 10.5582/irdr.2022.01069

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A case of hilar biliary cystadenoma with elevated IgG4 levels

Chen Z, Lu H, Xu J, Ma L

Intractable Rare Dis Res. 2022; 11(3):158-160.

DOI: 10.5582/irdr.2022.01076

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