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The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective.
Elmonem, Mohamed A; Belanger-Quintana, Amaya; Bordugo, Andrea; Boruah, Ritma; Cortès-Saladelafont, Elisenda; Endrakanti, Mounika; Giraldo, Pilar; Grünert, Sarah Catharina; Gupta, Neerja; Kabra, Madhulika; Knerr, Ina; Krämer, Johannes; Kuster, Alice; Levtchenko, Elena; Ngu, Lock-Hock; Rovira-Remisa, M Mar; Sass, Jörn Oliver; Sykut-Cegielska, Jolanta; Tummolo, Albina; van den Heuvel, Lambertus P.
  • Elmonem MA; Clinical and Chemical Pathology Department, Faculty of Medicine, Cairo University, Cairo, Egypt; Inherited metabolic disease unit (IMDU), Cairo University Children's Hospital, Cairo, Egypt. Electronic address: mohamed.abdelmonem@kasralainy.edu.eg.
  • Belanger-Quintana A; Unidad de Enfermedades Metabolicas, Hospital Ramon y Cajal, Madrid, Spain.
  • Bordugo A; Inherited Metabolic Disease Unit and Regional Newborn Screening Centre, Department of Child and Woman Health, Azienda Ospedaliera Università Integrata, Verona, Italy.
  • Boruah R; National Centre for Inherited Metabolic Disorders, Children's Health Ireland at Temple Street, Dublin, Ireland.
  • Cortès-Saladelafont E; Unit of Inborn Errors of Metabolism and Neuropediatrics, Pediatric Department, Hospital Germans Trias i Pujol, Badalona, Spain.
  • Endrakanti M; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
  • Giraldo P; Fundación Española para el Estudio y Terapéutica de la Enfermedad de Gaucher y otras lisosomales (FEETEG), Zaragoza, Spain.
  • Grünert SC; Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center- University of Freiburg, Faculty of Medicine, Freiburg, Germany.
  • Gupta N; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
  • Kabra M; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
  • Knerr I; National Centre for Inherited Metabolic Disorders, Children's Health Ireland at Temple Street, Dublin, Ireland.
  • Krämer J; Division of Pediatric Neurology and Inborn Errors of Metabolism, Children's Hospital, University of Ulm, Ulm, Germany.
  • Kuster A; Department of Neurometabolism, University Hospital of Nantes, France.
  • Levtchenko E; Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium.
  • Ngu LH; Genetics Department, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia.
  • Rovira-Remisa MM; Unit of Inborn Errors of Metabolism and Neuropediatrics, Pediatric Department, Hospital Germans Trias i Pujol, Badalona, Spain.
  • Sass JO; Research Group Inborn Errors of Metabolism, Department of Natural Sciences & Institute for Functional Gene Analytics (IFGA), Bonn-Rhein-Sieg University of Applied Sciences, Rheinbach, Germany.
  • Sykut-Cegielska J; Department of Inborn Errors of Metabolism and Paediatrics, Institute of Mother and Child, Warsaw, Poland.
  • Tummolo A; Unit of Metabolic and Genetic Disorders, Children Hospital Giovanni XXIII, Bari, Italy.
  • van den Heuvel LP; Translational Metabolic laboratory, Department of Laboratory Medicine, Radboud University Medical Centre, Nijmegen, the Netherlands.
Mol Genet Metab ; 131(3): 285-288, 2020 11.
Article in English | MEDLINE | ID: covidwho-797595
ABSTRACT
Quantitative estimates for the global impact of COVID-19 on the diagnosis and management of patients with inborn errors of metabolism (IEM) are lacking. We collected relevant data from 16 specialized medical centers treating IEM patients in Europe, Asia and Africa. The median decline of reported IEM related services in March 1st-May 31st 2020 compared to the same period in 2019 were as high as 60-80% with a profound impact on patient management and care for this vulnerable patient group. More representative data along with outcome data and guidelines for managing IEM disorders under such extraordinary circumstances are needed.
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Full text: Available Collection: International databases Database: MEDLINE Main subject: Delivery of Health Care / COVID-19 / Metabolism, Inborn Errors Type of study: Diagnostic study / Experimental Studies / Observational study / Prognostic study Limits: Humans / Infant, Newborn Country/Region as subject: Africa / Asia / Europa Language: English Journal: Mol Genet Metab Journal subject: Molecular Biology / Biochemistry / Metabolism Year: 2020 Document Type: Article

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Full text: Available Collection: International databases Database: MEDLINE Main subject: Delivery of Health Care / COVID-19 / Metabolism, Inborn Errors Type of study: Diagnostic study / Experimental Studies / Observational study / Prognostic study Limits: Humans / Infant, Newborn Country/Region as subject: Africa / Asia / Europa Language: English Journal: Mol Genet Metab Journal subject: Molecular Biology / Biochemistry / Metabolism Year: 2020 Document Type: Article