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Mothers’ lived experience of caring for children with inborn errors of amino acid metabolism
BackgroundInborn errors of amino acid metabolism are chronic conditions that have many sequels. Mothers of these children are facing different...
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Inborn Errors of Metabolism Associated With Autism Among Children: A Multicenter Study from Iran
ObjectiveThis study aimed to find the common inborn errors of metabolism in Iranian patients with autism spectrum disorder.
MethodsIn this...
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Observational study of birth outcomes in children with inborn errors of metabolism
BackgroundWe examined the birth outcomes of children with inborn errors of metabolism detected at birth or later in life.
MethodsWe carried out a...
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Chinese genetic variation database of inborn errors of metabolism: a systematic review of published variants in 13 genes
BackgroundPopulation-specific variation database of inborn errors of metabolism (IEMs) is essential for precise genetic diagnosis and disease...
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Biochemical testing for inborn errors of metabolism: experience from a large tertiary neonatal centre
Inborn errors of metabolism are an individually rare but collectively significant cause of mortality and morbidity in the neonatal period. They are...
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Neuroimaging findings of inborn errors of metabolism: urea cycle disorders, aminoacidopathies, and organic acidopathies
Although there are many types of inborn errors of metabolism (IEMs) affecting the central nervous system, also referred to as neurometabolic...
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Hematopoietic Stem Cell Transplantation for Children With Inborn Errors of Metabolism: Single Center Experience Over Two Decades
ObjectiveWe present outcome data on hematopoietic stem cell transplantation (HSCT) in children with inborn errors of metabolism (IEM).
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Instability of acylcarnitine and amino acids in dried blood spots preserved at various temperatures: the impact on retrospective analysis of inborn errors of metabolism biomarkers
Stored dried blood spots (DBSs) give significant specimens for retrospective detection of inborn errors of metabolisms (IEM) including for validation...
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A newborn Screening Programme for Inborn errors of metabolism in Galicia: 22 years of evaluation and follow-up
BackgroundThere is a notable lack of harmonisation in newborn screening (NBS) programmes worldwide. The Galician programme for early detection of...
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Out-of-pocket health expenditures in patients living with ınborn errors of metabolism
AimThe implementation of newborn screening programs for inborn errors of metabolism has advanced the diagnosis and management of affected infants and...
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Inborn errors of metabolism: Lessons from iPSC models
The possibility of reprogramming human somatic cells to pluripotency has opened unprecedented opportunities for creating genuinely human experimental...
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Acute hemodialysis therapy in neonates with inborn errors of metabolism
BackgroundInborn errors of metabolism (IEM), including organic acidemias and urea cycle defects, are characterized by systemic accumulation of toxic...
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Clinical and Genetic Spectrum of 50 Children with Inborn Errors of Metabolism from Central India
This is a single-center, retrospective analysis of children confirmed to have an inborn error of metabolism in the pediatric department of a teaching...
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Key patient-reported outcomes in children and adolescents with intoxication-type inborn errors of metabolism: an international Delphi-based consensus
BackgroundAcute intoxication-type inborn errors of metabolism (IT-IEM) such as urea cycle disorders and non-acute IT-IEM such as phenylketonuria...
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Inborn Errors of Metabolism—Approach to Diagnosis and Management in Neonates
Inborn errors of metabolism (IEM), otherwise known as inherited metabolic disorders (IMD), are individually rare, but collectively common. IEM pose a...
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Psychiatric Symptoms Associated with Inborn Errors of Metabolism
Inborn errors of metabolism (IEM) are individually rare but collectively common disorders, occurring in 1:800 to 1:1000 births. There are more than...
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Pancreatic involvement in patients with inborn errors of metabolism
BackgroundRepeated inflammation of the pancreas can cause pancreatitis or diabetes. It is well recognized that the organic acidemias may be...
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Trends of congenital hypothyroidism and inborn errors of metabolism in Pakistan
BackgroundMetabolic disorders are heterogeneous group of genetic disorders that are responsible for significant neonatal and infant morbidity and...