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

по Kenneson, Aileen, Singh, Rani H.
Опубликовано в: 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

по Singh, Rani H., Quirk, Meghan E.
Опубликовано 2011

Protein substitute for children and adults with phenylketonuria

по Yi, Sarah HL, Singh, Rani H
Опубликовано в: Cochrane Database Syst Rev (2015)

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

по Kenneson, Aileen, Youngborg, Lauren, Singh, Rani H.
Опубликовано в: Mol Genet Metab Rep (2020)

The Use of Telemedicine and Other Strategies by Registered Dietitians for the Medical Nutrition Therapy of Patients With Inherited Metabolic Disorders During the COVID-19 Pandemic

по Singh, Rani H., Pringle, Theresa, Kenneson, Aileen
Опубликовано в: Front Nutr (2021)

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

по Osara, Yetsa, Coakley, Kathryn, Devarajan, Aishwarya, Singh, Rani H.
Опубликовано в: Orphanet J Rare Dis (2017)

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

по Brantley, Kristen D, Douglas, Teresa D, Singh, Rani H
Опубликовано в: Orphanet J Rare Dis (2018)

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

по Pervaiz, Muhammad Ali, Kendal, Fran, Hegde, Madhuri, Singh, Rani H.
Опубликовано 2011

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

по Douglas, Teresa D, Ramakrishnan, Usha, Kable, Julie A, Singh, Rani H
Опубликовано 2013

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

по Kenneson, Aileen, Osara, Yetsa, Pringle, Theresa, Youngborg, Lauren, Singh, Rani H.
Опубликовано в: Mol Genet Metab Rep (2018)

Predictive equations underestimate resting energy expenditure in female adolescents with phenylketonuria

по Quirk, Meghan E., Schmotzer, Brian J., Schmotzer, Brian J., Singh, Rani H.
Опубликовано 2010

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

по Yi, Sarah H. L., Kable, Julie A., Evatt, Marian L., Singh, Rani H.
Опубликовано в: J Inherit Metab Dis (2011)

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

по MacDonald, Anita, Singh, Rani H., Rocha, Júlio César, van Spronsen, Francjan J.
Опубликовано в: 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...

по Douglas, Teresa D., Newby, L. Kristin, Eckstrand, Julie, Wixted, Douglas, Singh, Rani H.
Опубликовано в: Mol Genet Metab Rep (2020)

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

по Quirk, Meghan E., Dobrowolski, Steven F., Nelson, Benjamin E., Coffee, Bradford, Singh, Rani H.
Опубликовано 2012

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

по Douglas, Teresa D., Nucci, Anita M., Berry, Ann M., Henes, Sarah T., Singh, Rani H.
Опубликовано в: JIMD Rep (2019)

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

по Douglas, Teresa D., Kennedy, Mary J., Quirk, Meghan E., Yi, Sarah H., Singh, Rani H.
Опубликовано 2012

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

по Coakley, Kathryn E., Felner, Eric I., Tangpricha, Vin, Wilson, Peter W. F., Singh, Rani H.
Опубликовано в: JIMD Rep (2017)

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

по Montoya Parra, Gina A., Singh, Rani H., Cetinyurek-Yavuz, Aysun, Kuhn, Mirjam, MacDonald, Anita
Опубликовано в: Orphanet J Rare Dis (2018)

Food insecurity in females with phenylketonuria

по Coakley, Kathryn E., Porter‐Bolton, Suzanne, Salvatore, Mary L., Blair, Rosalynn B., Singh, Rani H.
Опубликовано в: JIMD Rep (2020)