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

द्वारा Kenneson, Aileen, Singh, Rani H.
में प्रकाशित 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

द्वारा Singh, Rani H., Quirk, Meghan E.
प्रकाशित 2011

Protein substitute for children and adults with phenylketonuria

द्वारा Yi, Sarah HL, Singh, Rani H
में प्रकाशित Cochrane Database Syst Rev (2015)

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

द्वारा Kenneson, Aileen, Youngborg, Lauren, Singh, Rani H.
में प्रकाशित 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

द्वारा Singh, Rani H., Pringle, Theresa, Kenneson, Aileen
में प्रकाशित 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

द्वारा Osara, Yetsa, Coakley, Kathryn, Devarajan, Aishwarya, Singh, Rani H.
में प्रकाशित Orphanet J Rare Dis (2017)

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

द्वारा Brantley, Kristen D, Douglas, Teresa D, Singh, Rani H
में प्रकाशित Orphanet J Rare Dis (2018)

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

द्वारा Pervaiz, Muhammad Ali, Kendal, Fran, Hegde, Madhuri, Singh, Rani H.
प्रकाशित 2011

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

द्वारा Douglas, Teresa D, Ramakrishnan, Usha, Kable, Julie A, Singh, Rani H
प्रकाशित 2013

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

द्वारा Kenneson, Aileen, Osara, Yetsa, Pringle, Theresa, Youngborg, Lauren, Singh, Rani H.
में प्रकाशित Mol Genet Metab Rep (2018)

Predictive equations underestimate resting energy expenditure in female adolescents with phenylketonuria

द्वारा Quirk, Meghan E., Schmotzer, Brian J., Schmotzer, Brian J., Singh, Rani H.
प्रकाशित 2010

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

द्वारा Yi, Sarah H. L., Kable, Julie A., Evatt, Marian L., Singh, Rani H.
में प्रकाशित J Inherit Metab Dis (2011)

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

द्वारा MacDonald, Anita, Singh, Rani H., Rocha, Júlio César, van Spronsen, Francjan J.
में प्रकाशित 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...

द्वारा Douglas, Teresa D., Newby, L. Kristin, Eckstrand, Julie, Wixted, Douglas, Singh, Rani H.
में प्रकाशित Mol Genet Metab Rep (2020)

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

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

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

द्वारा Douglas, Teresa D., Nucci, Anita M., Berry, Ann M., Henes, Sarah T., Singh, Rani H.
में प्रकाशित JIMD Rep (2019)

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

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

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

द्वारा Coakley, Kathryn E., Felner, Eric I., Tangpricha, Vin, Wilson, Peter W. F., Singh, Rani H.
में प्रकाशित JIMD Rep (2017)

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

द्वारा Montoya Parra, Gina A., Singh, Rani H., Cetinyurek-Yavuz, Aysun, Kuhn, Mirjam, MacDonald, Anita
में प्रकाशित Orphanet J Rare Dis (2018)

Food insecurity in females with phenylketonuria

द्वारा Coakley, Kathryn E., Porter‐Bolton, Suzanne, Salvatore, Mary L., Blair, Rosalynn B., Singh, Rani H.
में प्रकाशित JIMD Rep (2020)