Ornithine carbamoyltransferase deficiency

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

Developmental outcomes in 4-year-old children born in the first COVID-19 lockdown in England: preliminary findings from the Born In COVID Year - Core Lockdown Effects (BICYCLE) study.

Archives of disease in childhood·2026

Increasing complexity in children with life-limiting conditions in England: an analysis of national routine data.

Archives of disease in childhood·2026

Health-related quality of life in children with Robin sequence following Tübingen palatal plate treatment in infancy.

Archives of disease in childhood·2026

Acute and chronic physical risks in avoidant restrictive food intake disorder: findings from a national surveillance study.

Archives of disease in childhood·2026

Diagnostic accuracy study assessing the ability of paediatric asthma scores to predict admission following initial emergency department bronchodilator therapy: a Clinical Asthma Scoring systems in Paediatric Emergency (CASPER) study.

Archives of disease in childhood·2026

Artificial intelligence for child health: current capabilities and the next frontier.

Archives of disease in childhood·2026

Hereditary Hyperferritinemia Cataract Syndrome Mimicking Iron Overload in a Pediatric Patient With Coexisting HFE H63D Homozygosity.

Case reports in pediatrics·2026

Peeling Back the Layers.

Journal of the American Academy of Child and Adolescent Psychiatry·2026

Late-onset autoimmune diabetes in 2 octogenarians: diagnostic misclassification and therapeutic heterogeneity.

JCEM case reports·2026

Global Prevalence of Obsessive-Compulsive and Related Disorders: A Systematic Review and Modeling Study.

The American journal of psychiatry·2026

Neuromyelitis optica spectrum disorder: a 5-year experience in a tertiary hospital in Northern Vietnam.

Multiple sclerosis and related disorders·2026

Extraconal Orbital Cavernous Venous Malformations: An Incidental Finding.

Annals of African medicine·2026

Related Experiment Videos

Ornithine carbamoyltransferase deficiency

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.

Developmental outcomes in 4-year-old children born in the first COVID-19 lockdown in England: preliminary findings from the Born In COVID Year - Core Lockdown Effects (BICYCLE) study.

Increasing complexity in children with life-limiting conditions in England: an analysis of national routine data.

Health-related quality of life in children with Robin sequence following Tübingen palatal plate treatment in infancy.

Acute and chronic physical risks in avoidant restrictive food intake disorder: findings from a national surveillance study.

Diagnostic accuracy study assessing the ability of paediatric asthma scores to predict admission following initial emergency department bronchodilator therapy: a Clinical Asthma Scoring systems in Paediatric Emergency (CASPER) study.

Artificial intelligence for child health: current capabilities and the next frontier.

Hereditary Hyperferritinemia Cataract Syndrome Mimicking Iron Overload in a Pediatric Patient With Coexisting HFE H63D Homozygosity.

Peeling Back the Layers.

Late-onset autoimmune diabetes in 2 octogenarians: diagnostic misclassification and therapeutic heterogeneity.

Global Prevalence of Obsessive-Compulsive and Related Disorders: A Systematic Review and Modeling Study.

Neuromyelitis optica spectrum disorder: a 5-year experience in a tertiary hospital in Northern Vietnam.

Extraconal Orbital Cavernous Venous Malformations: An Incidental Finding.

Related Experiment Videos

Ornithine carbamoyltransferase deficiency

Related Concept Videos

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