An Overview of the Inborn Errors of Metabolism, Its Diagnosis, and Management
shritama aich
Disease and diagnosis, 2023
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Selective Screening for Inborn Errors of Metabolism: A Report of Six Years Experience
Sezer Uysal
Iranian Journal of Pediatrics, 2017
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Inborn Errors of Metabolism: Challenges and Management
Dr. Subir Kumar Das
Indian Journal of Clinical Biochemistry, 2013
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Uric acid, an important screening tool to detect inborn errors of metabolism: a case series
Vindya Gunasekara
BMC Research Notes
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Inborn errors of metabolism: a clinical overview
Ana Célia M A R T I N S Rocha
Sao Paulo Medical Journal, 1999
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Spectrum of Common and Rare Small Molecule Inborn Errors of Metabolism Diagnosed in a Tertiary Care Center of Maharashtra, India
Madhuri Engade
Cureus
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Testing Modalities for Inborn Errors of Metabolism — What a Clinician Needs to Know?
Sunita Bijarnia
Indian Pediatrics, 2019
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The diagnosis of inborn errors of metabolism in previously undiagnosed adults referred for medical genetics evaluation
Wendy Uhlmann
Molecular Genetics and Metabolism Reports, 2020
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Selective screening of 10,000 high-risk Brazilian patients for the detection of inborn errors of metabolism
Maira Vargas
European Journal of Pediatrics, 1997
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Annual Symposium of the Society for the Study of Inborn Errors of Metabolism
Graham Shortland
Journal of Inherited Metabolic Disease, 2012
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Inborn Errors of Metabolism and Brain Involvement - 5 Years Experience from a Tertiary Care Center in South India
Damodaran Vasudevan
Brain Damage - Bridging Between Basic Research and Clinics, 2012
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Id-GC/MS as a Tool for Diagnosis of Inborn Errors of Metabolism
Monica Culea
Bulletin of University of Agricultural Sciences and Veterinary Medicine Cluj-Napoca. Veterinary Medicine, 2007
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Diagnosis of Inherited Metabolic Disorders by selective metabolite testing: Three years experience at a Tertiary Care Center in Rawalpindi
Nayyar Chaudhry
Journal of the Pakistan Medical Association
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Challenges of genetic diagnosis of inborn errors of metabolism in a major tertiary care center in Lebanon
Doaa M S ABDOU
Frontiers in Genetics, 2022
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Research, diagnosis and education in inborn errors of metabolism in Colombia: 20 years’ experience from a reference center
olga yaneth echeverri
Orphanet Journal of Rare Diseases, 2018
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Selective screening in neonates suspected to have inborn errors of metabolism
Rabah M Shawky
Egyptian Journal of Medical Human Genetics, 2015
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Quantitative UPLC-MS/MS analysis of underivatised amino acids in body fluids is a reliable tool for the diagnosis and follow-up of patients with inborn errors of metabolism
Jean Scheijen
Clinica Chimica Acta, 2009
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Study of inborn errors of metabolism in urine from patients with unexplained mental retardation
Angela Sempere
Journal of Inherited Metabolic Disease, 2010
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Retrospective Study of Patients with Suspected Inborn Errors of Metabolism at Siriraj Hospital, Bangkok, Thailand (1997-2001)
Jisnuson Svasti
2005
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Etiology and outcome of inborn errors of metabolism
Anil Jalan
JPMA. The Journal of the Pakistan Medical Association, 2013
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Age-Specific Cut-off Values of Amino Acids and Acylcarnitines for Diagnosis of Inborn Errors of Metabolism Using Liquid Chromatography Tandem Mass Spectrometry
Sharif Akhteruzzaman
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Clinical approach to inherited metabolic diseases in the neonatal period: A 20-year survey
Norma Spécola
Journal of Inherited Metabolic Disease, 1989
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The changing face of newborn screening: diagnosis of inborn errors of metabolism by tandem mass spectrometry
Patricia Reece
Clinica Chimica Acta, 2002
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Inborn Errors of Metabolism
Maria Gogou
2017
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Treatment of inborn errors of metabolism
Ida Schwartz
Jornal de Pediatria, 2008
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A pragmatic approach to the diagnosis of inborn errors of metabolism in developing countries
Gloria Anetor
African Journal of Laboratory Medicine
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Revised Sections F7.5 (Quantitative Amino Acid Analysis) and F7.6 (Qualitative Amino Acid Analysis): American College of Medical Genetics Standards and Guidelines for Clinical Genetics Laboratories, 2003
Robert Grier
Genetics in Medicine, 2004
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Inborn errors of metabolism for the diagnostic radiologist
Christian Hendriksz
Pediatric Radiology, 2009
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Diagnosis and Management of Inborn Errors of Metabolism in Adult Patients in the Emergency Department
Rafael Enriquez de Salamanca
Diagnostics, 2021
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Incidence of Inborn Errors of Metabolism in Sick Neonates in a Tertiary Care Hospital in Developing Country
Kaneez Fatema
Journal of Pediatric Neurology and Neuroscience, 2018
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Treatment efficacy in inborn errors of metabolism
Philippe Campeau
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