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

Por Kenneson, Aileen, Singh, Rani H.
Publicado no Orphanet J Rare Dis (2020)

Using change in plasma phenylalanine concentrations and ability to liberalize diet to classify responsiveness to tetrahydrobiopterin therapy in patients with phenylketonuria

Por Singh, Rani H., Quirk, Meghan E.
Publicado em 2011

Protein substitute for children and adults with phenylketonuria

Por Yi, Sarah HL, Singh, Rani H
Publicado no Cochrane Database Syst Rev (2015)

Genetic testing experiences and genetics knowledge among families with inherited metabolic diseases

Por Kenneson, Aileen, Youngborg, Lauren, Singh, Rani H.
Publicado no Mol Genet Metab Rep (2020)

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

Por Osara, Yetsa, Coakley, Kathryn, Devarajan, Aishwarya, Singh, Rani H.
Publicado no Orphanet J Rare Dis (2017)

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

Por Brantley, Kristen D, Douglas, Teresa D, Singh, Rani H
Publicado no Orphanet J Rare Dis (2018)

MCT oil-based diet reverses hypertrophic cardiomyopathy in a patient with very long chain acyl-coA dehydrogenase deficiency

Por Pervaiz, Muhammad Ali, Kendal, Fran, Hegde, Madhuri, Singh, Rani H.
Publicado em 2011

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

Por Douglas, Teresa D, Ramakrishnan, Usha, Kable, Julie A, Singh, Rani H
Publicado em 2013

Natural history of children and adults with maple syrup urine disease in the NBS-MSUD Connect registry

Por Kenneson, Aileen, Osara, Yetsa, Pringle, Theresa, Youngborg, Lauren, Singh, Rani H.
Publicado no Mol Genet Metab Rep (2018)

Predictive equations underestimate resting energy expenditure in female adolescents with phenylketonuria

Por Quirk, Meghan E., Schmotzer, Brian J., Schmotzer, Brian J., Singh, Rani H.
Publicado em 2010

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

Por Yi, Sarah H. L., Kable, Julie A., Evatt, Marian L., Singh, Rani H.
Publicado no J Inherit Metab Dis (2011)

Optimising amino acid absorption: essential to improve nitrogen balance and metabolic control in phenylketonuria

Por MacDonald, Anita, Singh, Rani H., Rocha, Júlio César, van Spronsen, Francjan J.
Publicado no Nutr Res Rev (2018)

Lipid changes in the metabolome of a single case study with maple syrup urine disease (MSUD) after five days of improved diet adherence of controlled branched-chain amino acids (BC...

Por Douglas, Teresa D., Newby, L. Kristin, Eckstrand, Julie, Wixted, Douglas, Singh, Rani H.
Publicado no Mol Genet Metab Rep (2020)

Utility of phenylalanine hydroxylase genotype for tetrahydrobiopterin responsiveness classification in patients with phenylketonuria

Por Quirk, Meghan E., Dobrowolski, Steven F., Nelson, Benjamin E., Coffee, Bradford, Singh, Rani H.
Publicado em 2012

Large neutral amino acid status in association with P:T ratio and diet in adult and pediatric patients with phenylketonuria

Por Douglas, Teresa D., Nucci, Anita M., Berry, Ann M., Henes, Sarah T., Singh, Rani H.
Publicado no JIMD Rep (2019)

Accuracy of Six Anthropometric Skinfold Formulas Versus Air Displacement Plethysmography for Estimating Percent Body Fat in Female Adolescents with Phenylketonuria

Por Douglas, Teresa D., Kennedy, Mary J., Quirk, Meghan E., Yi, Sarah H., Singh, Rani H.
Publicado em 2012

Impact of Dietary Intake on Bone Turnover in Patients with Phenylalanine Hydroxylase Deficiency

Por Coakley, Kathryn E., Felner, Eric I., Tangpricha, Vin, Wilson, Peter W. F., Singh, Rani H.
Publicado no JIMD Rep (2017)

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

Por Montoya Parra, Gina A., Singh, Rani H., Cetinyurek-Yavuz, Aysun, Kuhn, Mirjam, MacDonald, Anita
Publicado no Orphanet J Rare Dis (2018)

Food insecurity in females with phenylketonuria

Por Coakley, Kathryn E., Porter‐Bolton, Suzanne, Salvatore, Mary L., Blair, Rosalynn B., Singh, Rani H.
Publicado no JIMD Rep (2020)

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

Por Demirdas, Serwet, Coakley, Katie E, Bisschop, Peter H, Hollak, Carla E M, Bosch, Annet M, Singh, Rani H
Publicado no Orphanet J Rare Dis (2015)