Results 141 to 150 of about 571,237 (168)

Laboratory Monitoring of Nutritional Deficiencies in Children Following Restrictive Diets: A Narrative Review and Risk-Based Considerations. [PDF]

Children (Basel)
Dobrijević D, Pastor K, Stojšić M.
europepmc   +1 more source

Dietary branched-chain amino acids enhance skeletal and intestinal development through targeted modulation of bone metabolism, tight junction proteins and amino acid transporter gene expression in broiler chickens. [PDF]

Poult Sci
Khalilzadeh S, Zarei A, Eila N.
europepmc   +1 more source

The First Case of Riboflavin Transporter Deficiency in sub-Saharan Africa

Seminars in Pediatric Neurology, 2018
This report describes the first case of a child with genetically confirmed Brown-Vialetto-van Laere syndrome in sub-Saharan Africa. This is an extremely rare clinical condition that presents with an auditory neuropathy, bulbar palsy, stridor, muscle weakness, and respiratory compromise that manifests with diaphragmatic and vocal cord paralysis.
Shaakira, Chaya, Marco, Zampoli, Diane, Gray, Jane, Booth, Gillian, Riordan, Alvin, Ndondo, Karen, Fieggen, Jody, Rusch, George, van der Watt, Komala, Pillay, Francois, van der Westhuizen, Manoj, Menezes, Jo, Wilmshurst   +12 more
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Supplemental Material, Amir_Supplementary_AppendixB - The Clinical Journey of Patients with Riboflavin Transporter Deficiency Type 2

, 2020
Supplemental Material, Amir_Supplementary_AppendixB for The Clinical Journey of Patients with Riboflavin Transporter Deficiency Type 2 by Fatima Amir, Carrie Atzinger, Keith Massey, John Greinwald, Lisa L.
Amir, Fatima, Atzinger, Carrie, Massey, Keith, Greinwald, John, Hunter, Lisa L., Ulm, Elizabeth, Kettler, Margaret   +6 more
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Development of a riboflavin-responsive model of riboflavin transporter deficiency in zebrafish

Human Molecular Genetics
Abstract Riboflavin transporter deficiency (RTD) is a rare and progressive neurodegenerative disease resulting from the disruption of RFVT2- and RFVT3- mediated riboflavin transport caused by biallelic mutations in SLC52A2 and SLC52A3, respectively.
Pena Ia, Sally Spendiff, Alicia Dibattista   +2 more
exaly   +3 more sources

Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency

American Journal of Medical Genetics, Part A, 2020
AbstractRiboflavin transporter deficiency (RTD) (MIM #614707) is a neurogenetic disorder with its most common manifestations including sensorineural hearing loss, peripheral neuropathy, respiratory insufficiency, and bulbar palsy. Here, we present a 2‐year‐old boy whose initial presentation was severe macrocytic anemia necessitating multiple blood ...
Sarah H Elsea, Nishitha Pillai, Alison Bertuch   +2 more
exaly   +3 more sources

Development and Phenotypic Characterisation of a CRISPR/Cas9 Model of Riboflavin Transporter Deficiency in Zebrafish

, 2023
Riboflavin transport is mediated, in part, by riboflavin transporter proteins 2 and 3, encoded by SLC52A2 and SLC52A3, respectively. Biallelic mutations in SLC52A2 and SLC52A3 impair riboflavin transporter protein function and riboflavin transport, causing disruptions to mitochondrial metabolism which result in sensory and motor neurodegeneration and ...
Choueiri, Catherine
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Riboflavin Transporter Deficiency: Effectiveness of High Dose Riboflavin Therapy and Clinical Trial Readiness

Riboflavin Transporter Deficiency (RTD) is a progressive inherited neuropathy of childhood onset characterised clinically by bulbar palsy, limb muscle weakness, sensorineural hearing loss, visual impairment, sensory ataxia and respiratory compromise. Without treatment, the condition progresses relentlessly resulting in early death due to respiratory ...
Fennessy, Jack Richard
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Ocular Biomarkers of Riboflavin Transporter Deficiency

Journal of Neuro-Ophthalmology, 2022
Background: To describe the clinical presentation with a focus on ocular manifestations and response to riboflavin supplementation of 3 patients with riboflavin transporter deficiency (RTD) caused by mutations in SLC52A2 ...
Sabrina, Bulas, Emma C, Bedoukian, Erin C, O'Neil, Ian D, Krantz, Sabrina W, Yum, Grant T, Liu, Tomas S, Aleman   +6 more
openaire   +2 more sources

Electrodiagnostic Findings in Riboflavin Transporter Deficiency Type 2

Journal of Clinical Neuromuscular Disease, 2022
Abstract We present the electrodiagnostic findings in a case of a 3-year-old girl presenting with sensory ataxia, gait disturbance, and visual–auditory disturbance with a genetically confirmed diagnosis of riboflavin transporter deficiency type 2 (RTD2). She carries a homozygous mutation in the SLC52A2 gene, c.1016T>C (p.Leu339Pro).
Jose A, Sanchez, Rebecca, Traub, Steven P, Trau, James F, Howard   +3 more
openaire   +2 more sources