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Items: 11


Rationale and Design for a Phase 1 Study of N-Acetylmannosamine for Primary Glomerular Diseases.

Huizing M, Yardeni T, Fuentes F, Malicdan MCV, Leoyklang P, Volkov A, Dekel B, Brede E, Blake J, Powell A, Chatrathi H, Anikster Y, Carrillo N, Gahl WA, Kopp JB.

Kidney Int Rep. 2019 Jun 25;4(10):1454-1462. doi: 10.1016/j.ekir.2019.06.012. eCollection 2019 Oct.


Quantification of lectin fluorescence in GNE myopathy muscle biopsies.

Leoyklang P, Class B, Noguchi S, Gahl WA, Carrillo N, Nishino I, Huizing M, Malicdan MC.

Muscle Nerve. 2018 Aug;58(2):286-292. doi: 10.1002/mus.26135. Epub 2018 Apr 23.


Sialylation of Thomsen-Friedenreich antigen is a noninvasive blood-based biomarker for GNE myopathy.

Leoyklang P, Malicdan MC, Yardeni T, Celeste F, Ciccone C, Li X, Jiang R, Gahl WA, Carrillo-Carrasco N, He M, Huizing M.

Biomark Med. 2014;8(5):641-52. doi: 10.2217/bmm.14.2.


Mutation update for GNE gene variants associated with GNE myopathy.

Celeste FV, Vilboux T, Ciccone C, de Dios JK, Malicdan MC, Leoyklang P, McKew JC, Gahl WA, Carrillo-Carrasco N, Huizing M.

Hum Mutat. 2014 Aug;35(8):915-26. doi: 10.1002/humu.22583. Review.


Non-specific accumulation of glycosphingolipids in GNE myopathy.

Patzel KA, Yardeni T, Le Poëc-Celic E, Leoyklang P, Dorward H, Alonzi DS, Kukushkin NV, Xu B, Zhang Y, Sollogoub M, Blériot Y, Gahl WA, Huizing M, Butters TD.

J Inherit Metab Dis. 2014 Mar;37(2):297-308. doi: 10.1007/s10545-013-9655-6. Epub 2013 Oct 18.


Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B gene.

Leoyklang P, Suphapeetiporn K, Srichomthong C, Tongkobpetch S, Fietze S, Dorward H, Cullinane AR, Gahl WA, Huizing M, Shotelersuk V.

Hum Genet. 2013 Dec;132(12):1383-93. doi: 10.1007/s00439-013-1345-9. Epub 2013 Aug 8.


Oral monosaccharide therapies to reverse renal and muscle hyposialylation in a mouse model of GNE myopathy.

Niethamer TK, Yardeni T, Leoyklang P, Ciccone C, Astiz-Martinez A, Jacobs K, Dorward HM, Zerfas PM, Gahl WA, Huizing M.

Mol Genet Metab. 2012 Dec;107(4):748-55. doi: 10.1016/j.ymgme.2012.10.011. Epub 2012 Oct 18.


Novel mutations in the STK11 gene in Thai patients with Peutz-Jeghers syndrome.

Ausavarat S, Leoyklang P, Vejchapipat P, Chongsrisawat V, Suphapeetiporn K, Shotelersuk V.

World J Gastroenterol. 2009 Nov 14;15(42):5364-7.


Three novel mutations in the PORCN gene underlying focal dermal hypoplasia.

Leoyklang P, Suphapeetiporn K, Wananukul S, Shotelersuk V.

Clin Genet. 2008 Apr;73(4):373-9. doi: 10.1111/j.1399-0004.2008.00975.x. Epub 2008 Mar 3.


Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects.

Leoyklang P, Suphapeetiporn K, Siriwan P, Desudchit T, Chaowanapanja P, Gahl WA, Shotelersuk V.

Hum Mutat. 2007 Jul;28(7):732-8.


A mutation of the p63 gene in non-syndromic cleft lip.

Leoyklang P, Siriwan P, Shotelersuk V.

J Med Genet. 2006 Jun;43(6):e28.

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