Diagnosis and management of inborn errors of metabolism

Long-Term Cognitive and Functional Outcomes in Children with Mucopolysaccharidosis (MPS)-IH (Hurler Syndrome) Treated with Hematopoietic Cell Transplantation.

JIMD reports·2016

Mucopolysaccharidosis type I.

Pediatric endocrinology reviews : PER·2014

Developmental outcome post allogenic bone marrow transplant for Niemann Pick Type C2.

Molecular genetics and metabolism·2012

Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy.

Journal of inherited metabolic disease·2012

Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C.

Neurology·2012

Female mucopolysaccharidosis IIIA mice exhibit hyperactivity and a reduced sense of danger in the open field test.

PloS one·2011

Prevalence of physical symptoms persisting in children a year after the Türkiye earthquake.

Archives of disease in childhood·2026

Evolving landscape of paediatric sepsis: progress, gaps and the next generation of tools.

Archives of disease in childhood·2026

Association between sociodemographic factors, neighbourhood cigarette smoke exposure and critical illness due to respiratory condition among paediatric population in England, 2014-2023: a retrospective cohort study.

Archives of disease in childhood·2026

Paediatric familial hypercholesterolaemia in Australia: a real-world registry study.

Archives of disease in childhood·2026

Quality and concordance of international paediatric sepsis guidelines: a cross-sectional appraisal from the SENTINEL International study.

Archives of disease in childhood·2026

Clinically significant night-to-night variability in overnight oximetry screening for obstructive sleep apnoea in children with Down syndrome: a retrospective review of screening data.

Archives of disease in childhood·2026

Comparative analysis of vitamin C derivatives on ATP homeostasis across diverse cell types.

Open life sciences·2026

[Role of glutathione in regulating ferroptosis and cuproptosis in metabolic dysfunction-associated steatotic liver disease].

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences·2026

Design of experiments-driven optimization of dual ultra-high-performance liquid chromatography high resolution mass spectrometry for integrated fecal metabolomics and lipidomics.

Analytica chimica acta·2026

Spanish founder variant in MYBPC3: implications of diagnostic criteria, clinical phenotype, and prognosis.

Revista espanola de cardiologia (English ed.)·2026

The Circadian Clock Component NPAS2 is modulated by AMPK and Regulates Substrate Utilization and Mitochondrial Function in Human Skeletal Muscle Cells.

Molecular metabolism·2026

Metabolic Dysfunction-Associated Steatohepatitis: Is there evidence for fractured CD4+ T cell tolerance in the immunopathogenesis of MASH?

Cellular and molecular gastroenterology and hepatology·2026

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Diagnosis and management of inborn errors of metabolism

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Long-Term Cognitive and Functional Outcomes in Children with Mucopolysaccharidosis (MPS)-IH (Hurler Syndrome) Treated with Hematopoietic Cell Transplantation.

Mucopolysaccharidosis type I.

Developmental outcome post allogenic bone marrow transplant for Niemann Pick Type C2.

Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy.

Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C.

Female mucopolysaccharidosis IIIA mice exhibit hyperactivity and a reduced sense of danger in the open field test.

Prevalence of physical symptoms persisting in children a year after the Türkiye earthquake.

Evolving landscape of paediatric sepsis: progress, gaps and the next generation of tools.

Association between sociodemographic factors, neighbourhood cigarette smoke exposure and critical illness due to respiratory condition among paediatric population in England, 2014-2023: a retrospective cohort study.

Paediatric familial hypercholesterolaemia in Australia: a real-world registry study.

Quality and concordance of international paediatric sepsis guidelines: a cross-sectional appraisal from the SENTINEL International study.

Clinically significant night-to-night variability in overnight oximetry screening for obstructive sleep apnoea in children with Down syndrome: a retrospective review of screening data.

Comparative analysis of vitamin C derivatives on ATP homeostasis across diverse cell types.

[Role of glutathione in regulating ferroptosis and cuproptosis in metabolic dysfunction-associated steatotic liver disease].

Design of experiments-driven optimization of dual ultra-high-performance liquid chromatography high resolution mass spectrometry for integrated fecal metabolomics and lipidomics.

Spanish founder variant in MYBPC3: implications of diagnostic criteria, clinical phenotype, and prognosis.

The Circadian Clock Component NPAS2 is modulated by AMPK and Regulates Substrate Utilization and Mitochondrial Function in Human Skeletal Muscle Cells.

Metabolic Dysfunction-Associated Steatohepatitis: Is there evidence for fractured CD4+ T cell tolerance in the immunopathogenesis of MASH?

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Diagnosis and management of inborn errors of metabolism

Related Concept Videos

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