Singh RH - Search Results

1

Total choline intake and working memory performance in adults with phenylketonuria.

Schoen MS, Boland KM, Christ SE, Cui X, Ramakrishnan U, Ziegler TR, Alvarez JA, Singh RH. Schoen MS, et al. Among authors: singh rh. Orphanet J Rare Dis. 2023 Jul 29;18(1):222. doi: 10.1186/s13023-023-02842-y. Orphanet J Rare Dis. 2023. PMID: 37516884 Free PMC article.

2

BH(4) therapy impacts the nutrition status and intake in children with phenylketonuria: 2-year follow-up.

Singh RH, Quirk ME, Douglas TD, Brauchla MC. Singh RH, et al. J Inherit Metab Dis. 2010 Dec;33(6):689-95. doi: 10.1007/s10545-010-9224-1. Epub 2010 Oct 13. J Inherit Metab Dis. 2010. PMID: 20941642 Clinical Trial.

3

A cross-sectional study of docosahexaenoic acid status and cognitive outcomes in females of reproductive age with phenylketonuria.

Yi SH, Kable JA, Evatt ML, Singh RH. Yi SH, et al. Among authors: singh rh. J Inherit Metab Dis. 2011 Apr;34(2):455-63. doi: 10.1007/s10545-011-9277-9. Epub 2011 Feb 9. J Inherit Metab Dis. 2011. PMID: 21305356 Free PMC article.

4

Longitudinal quality of life analysis in a phenylketonuria cohort provided sapropterin dihydrochloride.

Douglas TD, Ramakrishnan U, Kable JA, Singh RH. Douglas TD, et al. Among authors: singh rh. Health Qual Life Outcomes. 2013 Dec 30;11:218. doi: 10.1186/1477-7525-11-218. Health Qual Life Outcomes. 2013. PMID: 24373161 Free PMC article.

5

Bone health in phenylketonuria: a systematic review and meta-analysis.

Demirdas S, Coakley KE, Bisschop PH, Hollak CE, Bosch AM, Singh RH. Demirdas S, et al. Among authors: singh rh. Orphanet J Rare Dis. 2015 Feb 15;10:17. doi: 10.1186/s13023-015-0232-y. Orphanet J Rare Dis. 2015. PMID: 25758373 Free PMC article. Review.

6

Modeling correlates of low bone mineral density in patients with phenylalanine hydroxylase deficiency.

Coakley KE, Douglas TD, Goodman M, Ramakrishnan U, Dobrowolski SF, Singh RH. Coakley KE, et al. Among authors: singh rh. J Inherit Metab Dis. 2016 May;39(3):363-372. doi: 10.1007/s10545-015-9910-0. Epub 2016 Feb 16. J Inherit Metab Dis. 2016. PMID: 26883219

7

Development of newborn screening connect (NBS connect): a self-reported patient registry and its role in improvement of care for patients with inherited metabolic disorders.

Osara Y, Coakley K, Devarajan A, Singh RH. Osara Y, et al. Among authors: singh rh. Orphanet J Rare Dis. 2017 Jul 19;12(1):132. doi: 10.1186/s13023-017-0684-3. Orphanet J Rare Dis. 2017. PMID: 28724394 Free PMC article.

8

Status of nutrients important in brain function in phenylketonuria: a systematic review and meta-analysis.

Montoya Parra GA, Singh RH, Cetinyurek-Yavuz A, Kuhn M, MacDonald A. Montoya Parra GA, et al. Among authors: singh rh. Orphanet J Rare Dis. 2018 Jun 26;13(1):101. doi: 10.1186/s13023-018-0839-x. Orphanet J Rare Dis. 2018. PMID: 29941009 Free PMC article.

9

One-year follow-up of B vitamin and Iron status in patients with phenylketonuria provided tetrahydrobiopterin (BH4).

Brantley KD, Douglas TD, Singh RH. Brantley KD, et al. Among authors: singh rh. Orphanet J Rare Dis. 2018 Oct 30;13(1):192. doi: 10.1186/s13023-018-0923-2. Orphanet J Rare Dis. 2018. PMID: 30373601 Free PMC article. Clinical Trial.

10

Presentation and management of N-acetylglutamate synthase deficiency: a review of the literature.

Kenneson A, Singh RH. Kenneson A, et al. Among authors: singh rh. Orphanet J Rare Dis. 2020 Oct 9;15(1):279. doi: 10.1186/s13023-020-01560-z. Orphanet J Rare Dis. 2020. PMID: 33036647 Free PMC article. Review.

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