Cargando…

Establishment and Validation of Reference Values for Amino Acids and Acylcarnitines in Dried Blood Spots for Omani Newborns Using Tandem Mass Spectrometry

OBJECTIVES: To establish a reference range for acylcarnitines (ACs) and amino acids (AAs) concentrations in dried blood spot (DBS) samples of Omani neonates to detect inborn errors of metabolism (IEM), and to evaluate the effect of age and sex on ACs and AAs. METHODS: Electrospray-ionization tandem...

Descripción completa

Detalles Bibliográficos
Autores principales:	Al-Riyami, Sulaiman, Al-Manei, Matar, Al-Fahdi, Assad, Al-Thihli, Khalid
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	OMJ 2022
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9464332/ https://www.ncbi.nlm.nih.gov/pubmed/36188883 http://dx.doi.org/10.5001/omj.2022.88

Ejemplares similares

Epidemiology and Outcome of CKD in Omani Children
por: Al Riyami, Mohamed S, et al.
Publicado: (2019)

Uptake of prenatal genetic diagnosis and termination of pregnancy by Omani Muslim families at risk of genetic disorders: experience over a 9-year period
por: Bruwer, Zandré, et al.
Publicado: (2022)

Mucolipidosis Type IV in Omani Families with a Novel MCOLN1 Mutation: Search for Evidence of Founder Effect
por: Al-Alawi, Badriya, et al.
Publicado: (2022)

Reference values of amino acids, acylcarnitines and succinylacetone by tandem mass spectrometry for use in newborn screening in southwest Colombia
por: Céspedes, Nora, et al.
Publicado: (2017)

Partial Biotinidase Deficiency Revealed Imbalances in Acylcarnitines Profile at Tandem Mass Spectrometry Newborn Screening
por: Cicalini, Ilaria, et al.
Publicado: (2021)

Establishment of age- and -gender specific reference intervals for amino acids and acylcarnitines by tandem mass spectrometry in Turkish paediatric population
por: Madenci, Özlem Çakır, et al.
Publicado: (2023)

Cilia Ultrastructure Associated with Primary Ciliary Dyskinesia in Omani Patients
por: Al Adawi, Kawther, et al.
Publicado: (2023)

Normal electro-oculography in a young Omani male with genetically confirmed best disease complicated by choroidal neovascularization
por: Al-Abri, Mohamed, et al.
Publicado: (2019)

The Unmet Supportive Care Needs of Omani Women Diagnosed with Breast Cancer
por: Al-Azri, Mohammed, et al.
Publicado: (2022)

Awareness of the Dangers of High Salt Intake among the Urban Omani Population
por: Al-Riyami, Hassan, et al.
Publicado: (2020)

Understanding the Perceptions of Omani Women Regarding Life After a Breast Cancer Diagnosis
por: Al-Riyami, Asya, et al.
Publicado: (2020)

Molecular Genetic Diagnosis of Omani Patients With Inherited Cystic Kidney Disease
por: Al Alawi, Intisar, et al.
Publicado: (2019)

Clinicopathological Profile of Paroxysmal Nocturnal Hemoglobinuria among Omani Patients: A Case Series
por: Al-Riyami, Arwa Z., et al.
Publicado: (2022)

Genetic analysis and outcomes of Omani children with steroid‐resistant nephrotic syndrome
por: Al Riyami, Mohamed S., et al.
Publicado: (2023)

The Association of Human Leukocyte Antigens Complex with Type 1 Diabetes in the Omani Population
por: Al-Balushi, Mohammed, et al.
Publicado: (2023)

Clinical and demographic profile of pediatric cataracts among Omani children presenting to a tertiary eye care center, Oman
por: Al-Riyami, Muzna, et al.
Publicado: (2023)

Prevalence of psychological distress and associated factors among Omani women diagnosed with breast cancer: a single-centre, cross-sectional study
por: Al-Fahdi, Amal, et al.
Publicado: (2023)

Pallister-Killian Mosaic Syndrome in an Omani Newborn: A Case Report and Literature Review
por: Elsheikh, Afaf, et al.
Publicado: (2019)

Prevalence of Red Blood Cell Major Blood Group Antigens and Phenotypes among Omani Blood Donors
por: Al-Riyami, Arwa Z., et al.
Publicado: (2019)

Acylcarnitine ratio indices in diagnosing carnitine-acylcarnitine translocase deficiency in newborns
por: Tan, Yifei, et al.
Publicado: (2023)

Assessment of methylcitrate and methylcitrate to citrate ratio in dried blood spots as biomarkers for inborn errors of propionate metabolism
por: Al-Dirbashi, Osama Y., et al.
Publicado: (2019)

Knowledge and perceptions of diabetes in a semi-urban Omani population
por: Al Shafaee, Mohammed A, et al.
Publicado: (2008)

Prevalence and age-of-onset distributions of DSM IV mental disorders and their severity among school going Omani adolescents and youths: WMH-CIDI findings
por: Jaju, Sanjay, et al.
Publicado: (2009)

Health services utilization by school going Omani adolescents and youths with DSM IV mental disorders and barriers to service use
por: Al Riyami, Asya A, et al.
Publicado: (2009)

The diagnostic yield of whole exome sequencing as a first approach in consanguineous Omani renal ciliopathy syndrome patients
por: Al Alawi, Intisar, et al.
Publicado: (2021)

Quantification of Colistin in Plasma by Liquid Chromatography-Tandem Mass Spectrometry: Application to a Pharmacokinetic Study
por: Matar, Kamal M., et al.
Publicado: (2020)

Hereditary Paraganglioma in an Omani Family
por: Pambinezhthu, Fathima, et al.
Publicado: (2021)

Color, flavonoids, phenolics and antioxidants of Omani honey
por: Al-Farsi, Mohamed, et al.
Publicado: (2018)

Analysis of Acid Sphingomyelinase Activity in Dried Blood Spots Using Tandem Mass Spectrometry
por: Legnini, Elisa, et al.
Publicado: (2012)

Drug utilization pattern in an Omani pediatric population
por: Al Balushi, K. A., et al.
Publicado: (2013)

Sleep Patterns and Quality in Omani Adults
por: Al-Abri, Mohammed A, et al.
Publicado: (2020)

Polycystic ovarian syndrome is linked to increased oxidative stress in Omani women
por: Sulaiman, Maha AH, et al.
Publicado: (2018)

Primary Hypothyroidism with Pituitary Hyperplasia in an Omani Girl
por: Abdallah Fadle, Wafa, et al.
Publicado: (2022)

Transglutaminase-1 Mutations in Omani Families with Lamellar Ichthyosis
por: Al-Naamani, Aisha, et al.
Publicado: (2013)

Ten-year-old Omani Girl with Lyme Arthritis
por: Al Mughaizwi, Tahani, et al.
Publicado: (2022)

Exclusive Breastfeeding: Barrier analysis amongst Omani mothers
por: Al-Ghannami, Samia, et al.
Publicado: (2023)

Simultaneous determination of cardiovascular drugs in dried blood spot by liquid chromatography-tandem mass spectrometry
por: Kim, Hyung Min, et al.
Publicado: (2019)

A new multiplex analysis of glucosylsphingosine and globotriaosylsphingosine in dried blood spots by tandem mass spectrometry
por: Van Baelen, Amber, et al.
Publicado: (2023)

Instability of Acylcarnitines in Stored Dried Blood Spots: The Impact on Retrospective Analysis of Biomarkers for Inborn Errors of Metabolism
por: van Rijt, Willemijn J., et al.
Publicado: (2020)

Tandem Mass Spectrometry Assays of Palmitoyl Protein Thioesterase 1 and Tripeptidyl Peptidase Activity in Dried Blood Spots for the Detection of Neuronal Ceroid Lipofuscinoses in Newborns
por: Barcenas, Mariana, et al.
Publicado: (2014)

Cannot write session to /tmp/vufind_sessions/sess_3nr3nf9egu4bura28ls58kni42