Phornphutkul C - Search Results

1

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.

2

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

3

Ochronotic Chondropathy: A Case Report.

Littman J, Pietro J, Olansen J, Phornphutkul C, Aaron RK. Littman J, et al. Among authors: phornphutkul c. Biomedicines. 2023 Sep 25;11(10):2625. doi: 10.3390/biomedicines11102625. Biomedicines. 2023. PMID: 37892999 Free PMC article.

4

Individualized care for patients with intersex (disorders/differences of sex development): Part 3.

Bangalore Krishna K, Kogan BA, Ernst MM, Romao RL, Mohsin F, Serrano-Gonzalez M, Quintos JB, Phornphutkul C, Aguiar L, Lee PA. Bangalore Krishna K, et al. Among authors: phornphutkul c. J Pediatr Urol. 2020 Oct;16(5):598-605. doi: 10.1016/j.jpurol.2020.06.004. Epub 2020 Jun 11. J Pediatr Urol. 2020. PMID: 32605872 Review.

5

Glycogen storage disease type IX and growth hormone deficiency presenting as severe ketotic hypoglycemia.

Hodax JK, Uysal S, Quintos JB, Phornphutkul C. Hodax JK, et al. Among authors: phornphutkul c. J Pediatr Endocrinol Metab. 2017 Feb 1;30(2):247-251. doi: 10.1515/jpem-2016-0342. J Pediatr Endocrinol Metab. 2017. PMID: 28085675

6

EARLY-ONSET GONADOBLASTOMA IN A 13-MONTH-OLD INFANT WITH 46,XY COMPLETE GONADAL DYSGENESIS IDENTIFIED WITH PRENATAL TESTING: A CASE OF CHROMOSOME 9p DELETION.

Fredette ME, Cusmano K, Phornphutkul C, Schwab J, Caldamone A, Topor LS. Fredette ME, et al. Among authors: phornphutkul c. AACE Clin Case Rep. 2019 Aug 14;5(6):e380-e383. doi: 10.4158/ACCR-2019-0285. eCollection 2019 Nov-Dec. AACE Clin Case Rep. 2019. PMID: 31967076 Free PMC article.

7

Efficacy of growth hormone therapy in Kearns-Sayre syndrome: the KIGS experience.

Quintos JB, Hodax JK, Gonzales-Ellis BA, Phornphutkul C, Wajnrajch MP, Boney CM. Quintos JB, et al. Among authors: phornphutkul c. J Pediatr Endocrinol Metab. 2016 Nov 1;29(11):1319-1324. doi: 10.1515/jpem-2016-0172. J Pediatr Endocrinol Metab. 2016. PMID: 27718492 Review.

8

LRP5, Bone Mass Polymorphisms and Skeletal Disorders.

Littman J, Yang W, Olansen J, Phornphutkul C, Aaron RK. Littman J, et al. Among authors: phornphutkul c. Genes (Basel). 2023 Sep 23;14(10):1846. doi: 10.3390/genes14101846. Genes (Basel). 2023. PMID: 37895195 Free PMC article. Review.

9

Osteoporosis, Fractures, and Blindness Due to a Missense Mutation in the LRP5 Receptor.

Littman J, Phornphutkul C, Saade C, Katarincic J, Aaron R. Littman J, et al. Among authors: phornphutkul c. Orthop Res Rev. 2023 Mar 22;15:39-45. doi: 10.2147/ORR.S400111. eCollection 2023. Orthop Res Rev. 2023. PMID: 36987449 Free PMC article.

10

NOVEL XRCC4 MUTATIONS IN AN INFANT WITH MICROCEPHALIC PRIMORDIAL DWARFISM, DILATED CARDIOMYOPATHY, SUBCLINICAL HYPOTHYROIDISM, AND EARLY DEATH: EXPANDING THE PHENOTYPE OF XRCC4 MUTATIONS.

Fredette ME, Lombardi KC, Duker AL, Buck CO, Phornphutkul C, Bober MB, Quintos JB. Fredette ME, et al. Among authors: phornphutkul c. AACE Clin Case Rep. 2019 Aug 28;6(1):e1-e4. doi: 10.4158/ACCR-2019-0283. eCollection 2020 Jan-Feb. AACE Clin Case Rep. 2019. PMID: 32524007 Free PMC article.

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