Phornphutkul C - Search Results

1

Severe CNS involvement in a subset of long-term treated children with infantile-onset Pompe disease.

Kenney-Jung D, Korlimarla A, Spiridigliozzi GA, Wiggins W, Malinzak M, Nichting G, Jung SH, Sun A, Wang RY, Al Shamsi A, Phornphutkul C, Owens J, Provenzale JM, Kishnani PS. Kenney-Jung D, et al. Among authors: phornphutkul c. Mol Genet Metab. 2024 Feb;141(2):108119. doi: 10.1016/j.ymgme.2023.108119. Epub 2023 Dec 22. Mol Genet Metab. 2024. PMID: 38184429

2

Long-term follow-up of well-treated nephropathic cystinosis patients.

Kleta R, Bernardini I, Ueda M, Varade WS, Phornphutkul C, Krasnewich D, Gahl WA. Kleta R, et al. Among authors: phornphutkul c. J Pediatr. 2004 Oct;145(4):555-60. doi: 10.1016/j.jpeds.2004.03.056. J Pediatr. 2004. PMID: 15480385

3

The role of insulin in chondrogenesis.

Phornphutkul C, Wu KY, Gruppuso PA. Phornphutkul C, et al. Mol Cell Endocrinol. 2006 Apr 25;249(1-2):107-15. doi: 10.1016/j.mce.2006.02.002. Epub 2006 Mar 13. Mol Cell Endocrinol. 2006. PMID: 16530934

4

Severe hyperbilirubinemia in Thai newborns in association with erythrocyte G6PD deficiency.

Phornphutkul C, Whitaker JA, Worathumrong N. Phornphutkul C, et al. Clin Pediatr (Phila). 1969 May;8(5):275-8. doi: 10.1177/000992286900800509. Clin Pediatr (Phila). 1969. PMID: 5768508 No abstract available.

5

The promoter of a lysosomal membrane transporter gene, CTNS, binds Sp-1, shares sequences with the promoter of an adjacent gene, CARKL, and causes cystinosis if mutated in a critical region.

Phornphutkul C, Anikster Y, Huizing M, Braun P, Brodie C, Chou JY, Gahl WA. Phornphutkul C, et al. Am J Hum Genet. 2001 Oct;69(4):712-21. doi: 10.1086/323484. Epub 2001 Aug 14. Am J Hum Genet. 2001. PMID: 11505338 Free PMC article.

6

Leucine restriction inhibits chondrocyte proliferation and differentiation through mechanisms both dependent and independent of mTOR signaling.

Kim MS, Wu KY, Auyeung V, Chen Q, Gruppuso PA, Phornphutkul C. Kim MS, et al. Among authors: phornphutkul c. Am J Physiol Endocrinol Metab. 2009 Jun;296(6):E1374-82. doi: 10.1152/ajpendo.91018.2008. Epub 2009 Apr 28. Am J Physiol Endocrinol Metab. 2009. PMID: 19401455 Free PMC article.

7

A novel presentation of Addison disease: hypoglycemia unawareness in an adolescent with insulin-dependent diabetes mellitus.

Phornphutkul C, Boney CM, Gruppuso PA. Phornphutkul C, et al. J Pediatr. 1998 May;132(5):882-4. doi: 10.1016/s0022-3476(98)70325-7. J Pediatr. 1998. PMID: 9602207

8

Minocycline-induced hyperpigmentation masquerading as alkaptonuria in individuals with joint pain.

Suwannarat P, Phornphutkul C, Bernardini I, Turner M, Gahl WA. Suwannarat P, et al. Among authors: phornphutkul c. Arthritis Rheum. 2004 Nov;50(11):3698-701. doi: 10.1002/art.20606. Arthritis Rheum. 2004. PMID: 15529343 Free article.

9

Application of Whole Exome Sequencing in Congenital Secretory Diarrhea Diagnosis.

Gupta A, Sanville J, Menz T, Warner N, Muise AM, Fiedler K, Martín MG, Padbury J, Phornphutkul C, Sanchez-Esteban J, Cerezo CS. Gupta A, et al. Among authors: phornphutkul c. J Pediatr Gastroenterol Nutr. 2019 Jun;68(6):e106-e108. doi: 10.1097/MPG.0000000000002258. J Pediatr Gastroenterol Nutr. 2019. PMID: 30633106 Free PMC article. No abstract available.

10

Natural history of alkaptonuria.

Phornphutkul C, Introne WJ, Perry MB, Bernardini I, Murphey MD, Fitzpatrick DL, Anderson PD, Huizing M, Anikster Y, Gerber LH, Gahl WA. Phornphutkul C, et al. N Engl J Med. 2002 Dec 26;347(26):2111-21. doi: 10.1056/NEJMoa021736. N Engl J Med. 2002. PMID: 12501223 Free article.

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