Search Results - "Rani, Singh"

Natural history of children and adults with phenylketonuria in the NBS-PKU Connect registry by Kenneson, Aileen, Singh, Rani H.

“…Phenylalanine hydroxylase deficiency, or phenylketonuria (PKU), is a rare autosomal recessive metabolic disorder. Early diagnosis via newborn screening (NBS)…”
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Plasma metabolomic profile changes in females with phenylketonuria following a camp intervention by Schoen, Meriah S, Singh, Rani H

“…There remains a limited understanding of the metabolic perturbations, beyond phenylalanine (Phe) metabolism, that contribute to phenotypic variability in…”
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Underutilization of epilepsy surgery: Part I: A scoping review of barriers by Samanta, Debopam, Ostendorf, Adam P., Willis, Erin, Singh, Rani, Gedela, Satyanarayana, Arya, Ravindra, Scott Perry, M.

“…•Epilepsy surgery is an effective and safe treatment for drug-resistant epilepsy.•It remains one of the most underutilized treatments in modern…”
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Presentation and management of N-acetylglutamate synthase deficiency: a review of the literature by Kenneson, Aileen, Singh, Rani H

“…N-Acetylglutamate synthase (NAGS) deficiency is an extremely rare autosomal recessive metabolic disorder affecting the urea cycle, leading to episodes of…”
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Optimising amino acid absorption: essential to improve nitrogen balance and metabolic control in phenylketonuria by MacDonald, Anita, Singh, Rani H., Rocha, Júlio César, van Spronsen, Francjan J.

“…It has been nearly 70 years since the discovery that strict adherence to a diet low in phenylalanine prevents severe neurological sequelae in patients with…”
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Nutrition management of PKU with pegvaliase therapy: update of the web-based PKU nutrition management guideline recommendations by Cunningham, Amy, Rohr, Fran, Splett, Patricia, Mofidi, Shideh, Bausell, Heather, Stembridge, Adrya, Kenneson, Aileen, Singh, Rani H

“…The web-based GMDI/SERN PKU Nutrition Management Guideline, published before approval of pegvaliase pharmacotherapy, offers guidance for nutrition management…”
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Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations by Chinsky, Jeffrey M, Singh, Rani, Ficicioglu, Can, van Karnebeek, Clara D M, Grompe, Markus, Mitchell, Grant, Waisbren, Susan E, Gucsavas-Calikoglu, Muge, Wasserstein, Melissa P, Coakley, Katie, Scott, C Ronald

“…Tyrosinemia type I (hepatorenal tyrosinemia, HT-1) is an autosomal recessive condition resulting in hepatic failure with comorbidities involving the renal and…”
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In mouse model of mixed granulocytic asthma with corticosteroid refractoriness, Bronchom mitigates airway hyperresponsiveness, inflammation and airway remodeling by Balkrishna, Acharya, Sinha, Sandeep, Pandey, Anupam, Singh, Surjeet, Joshi, Monali, Singh, Rani, Varshney, Anurag

“…Asthma is a heterogeneous, inflammatory disease with several phenotypes and endotypes. Severe asthmatics often exhibit mixed granulocytosis with reduced…”
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Recommendations for the nutrition management of phenylalanine hydroxylase deficiency by Singh, Rani H., Rohr, Fran, Frazier, Dianne, Cunningham, Amy, Mofidi, Shideh, Ogata, Beth, Splett, Patricia L., Moseley, Kathryn, Huntington, Kathleen, Acosta, Phyllis B., Vockley, Jerry, Van Calcar, Sandra C.

“…The effectiveness of a phenylalanine-restricted diet to improve the outcome of individuals with phenylalanine hydroxylase deficiency (OMIM no. 261600) has been…”
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Cannabidiol improves frequency and severity of seizures and reduces adverse events in an open-label add-on prospective study by Szaflarski, Jerzy P., Bebin, Elizabeth Martina, Cutter, Gary, DeWolfe, Jennifer, Dure, Leon S., Gaston, Tyler E., Kankirawatana, Pongkiat, Liu, Yuliang, Singh, Rani, Standaert, David G., Thomas, Ashley E., Ver Hoef, Lawrence W.

“…The objective of this study was to characterize the changes in adverse events, seizure severity, and frequency in response to a pharmaceutical formulation of…”
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Association of Time to Clinical Remission With Sustained Resolution in Children With New-Onset Infantile Spasms by Yuskaitis, Christopher J., Mytinger, John R., Baumer, Fiona M., Zhang, Bo, Liu, Shanshan, Samanta, Debopam, Hussain, Shaun A., Yozawitz, Elissa G., Keator, Cynthia G., Joshi, Charuta, Singh, Rani K., Bhatia, Sonal, Bhalla, Sonam, Shellhaas, Renée, Harini, Chellamani

“…Standard therapies (adrenocorticotropic hormone [ACTH], oral steroids, or vigabatrin) fail to control infantile spasms in almost half of children. Early…”
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Evaluation of Published Population Pharmacokinetic Models to Inform Tacrolimus Therapy in Adult Lung Transplant Recipients by Kirubakaran, Ranita, Singh, Rani M, Carland, Jane E, Day, Richard O, Stocker, Sophie L

“…The applicability of currently available tacrolimus population pharmacokinetic models in guiding dosing for lung transplant recipients is unclear. In this…”
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Nutrition management guideline for maple syrup urine disease: An evidence- and consensus-based approach by Frazier, Dianne M., Allgeier, Courtney, Homer, Caroline, Marriage, Barbara J., Ogata, Beth, Rohr, Frances, Splett, Patricia L., Stembridge, Adrya, Singh, Rani H.

“…In an effort to increase harmonization of care and enable outcome studies, the Genetic Metabolic Dietitians International (GMDI) and the Southeast Regional…”
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Renogrit selectively protects against cisplatin-induced injury in human renal tubular cells and in Caenorhabditis elegans by harmonizing apoptosis and mitophagy by Balkrishna, Acharya, Gohel, Vivek, Pathak, Nishit, Joshi, Monali, Singh, Rani, Kumari, Ankita, Dev, Rishabh, Varshney, Anurag

“…Cisplatin-induced nephrotoxicity restricts its clinical use against solid tumors. The present study elucidated the pharmacological effects of Renogrit, a…”
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The efficacy of Carbamylglutamate impacts the nutritional management of patients with N-Acetylglutamate synthase deficiency by Singh, Rani H, Bourdages, Marie-Hélène, Kurtz, Angela, MacLoed, Erin, Norman, Chelsea, Ratko, Suzanne, van Calcar, Sandra C, Kenneson, Aileen

“…The autosomal recessive disorder N-acetylglutamate synthase (NAGS) deficiency is the rarest defect of the urea cycle, with an incidence of less than one in…”
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The Relationship Between Working Memory and Anxiety in Individuals With Early Treated Phenylketonuria (PKU) by Boland, Kelly M., Schoen, Meriah S., Singh, Rani H., Clocksin, Hayley E., Cissne, Mackenzie N., Christ, Shawn E.

“…Objective: Although early diagnosis and treatment prevent the severe impairments associated with untreated phenylketonuria (PKU), individuals with early…”
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Palliative Epilepsy Surgery Procedures in Children by Matern, Tyson S., DeCarlo, Rebecca, Ciliberto, Michael A., Singh, Rani K.

“…Surgical treatment of epilepsy typically focuses on identification of a seizure focus with subsequent resection and/or disconnection to “cure” the patient's…”
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Bone health in phenylketonuria: a systematic review and meta-analysis by Demirdas, Serwet, Coakley, Katie E, Bisschop, Peter H, Hollak, Carla E M, Bosch, Annet M, Singh, Rani H

“…Patients with Phenylketonuria (PKU) reportedly have decreased bone mineral density (BMD). The primary aim of this study was to perform a systematic review and…”
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Total choline intake and working memory performance in adults with phenylketonuria by Schoen, Meriah S, Boland, Kelly M, Christ, Shawn E, Cui, Xiangqin, Ramakrishnan, Usha, Ziegler, Thomas R, Alvarez, Jessica A, Singh, Rani H

“…Despite early diagnosis and compliance with phenylalanine (Phe)-restricted diets, many individuals with phenylketonuria (PKU) still exhibit neurological…”
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Anti-oxidant response of lipidom modulates lipid metabolism in Caenorhabditis elegans and in OxLDL-induced human macrophages by tuning inflammatory mediators by Balkrishna, Acharya, Gohel, Vivek, Pathak, Nishit, Singh, Rani, Tomer, Meenu, Rawat, Malini, Dev, Rishabh, Varshney, Anurag

“…Atherosclerosis is the main pathological process of several cardiovascular diseases. It may begin early in life and stay latent and asymptomatic for an…”
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