Diagnosis and management of inborn errors of metabolism--an update

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

Severe burn disrupts tissue-specific clock gene expression in peripheral blood mononuclear cells and skeletal muscle in a rodent model.

Journal of burn care & research : official publication of the American Burn Association·2026

Novel Biological Mechanisms in MDD Pathophysiology: Emerging Roles of Glymphatic Dysfunction, Ferroptosis, and Extracellular Vesicles (EVs).

Central nervous system agents in medicinal chemistry·2026

ALKBH5-Dependent m6A Demethylation Promotes Cardiac Aging Through SLC38A3 Reduction and Glutamine Metabolic Alteration.

Circulation·2026

Metabolic regulation of oocyte maturation and early embryo development in mammals.

Life metabolism·2026

The mitochondrial theory of sleep: an integrative framework for understanding sleep-wake regulation.

Frontiers in psychiatry·2026

Impact of long-term fasting on liver and abdominal adipose tissues monitored by quantitative chemical-shift encoded MRI.

Frontiers in nutrition·2026

Related Experiment Videos

Diagnosis and management of inborn errors of metabolism--an update

Related Concept Videos

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.

Severe burn disrupts tissue-specific clock gene expression in peripheral blood mononuclear cells and skeletal muscle in a rodent model.

Novel Biological Mechanisms in MDD Pathophysiology: Emerging Roles of Glymphatic Dysfunction, Ferroptosis, and Extracellular Vesicles (EVs).

ALKBH5-Dependent m6A Demethylation Promotes Cardiac Aging Through SLC38A3 Reduction and Glutamine Metabolic Alteration.

Metabolic regulation of oocyte maturation and early embryo development in mammals.

The mitochondrial theory of sleep: an integrative framework for understanding sleep-wake regulation.

Impact of long-term fasting on liver and abdominal adipose tissues monitored by quantitative chemical-shift encoded MRI.

Related Experiment Videos

Diagnosis and management of inborn errors of metabolism--an update

Related Concept Videos

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