Familial haemophagocytic reticulosis in first cousins

Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene.

American journal of human genetics·2000

Cardiomyopathy in childhood, mitochondrial dysfunction, and the role of L-carnitine.

American heart journal·2000

D-2-Hydroxyglutaric aciduria: biochemical marker or clinical disease entity?

Annals of neurology·1999

Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0.

The Journal of clinical investigation·1998

Inborn errors of metabolism: medical and administrative "orphans".

The American journal of managed care·1998

Outcome of pyruvate dehydrogenase deficiency treated with ketogenic diets. Studies in patients with identical mutations.

Neurology·1997

Texture and nutrient content of commercial baby foods supplied in spouted pouches, compared to other packaging.

Archives of disease in childhood·2026

High oral corticosteroid use during acute attacks of preschool wheeze irrespective of clinical phenotype.

Archives of disease in childhood·2026

Medicines for children and young people who seek support around gender: a horizon scanning study of the emerging medicines pipeline.

Archives of disease in childhood·2026

Impacts of vaping on children and young people: a systematic review.

Archives of disease in childhood·2026

Informed, autonomous and safe: a qualitative study describing the views of English adolescents on consent to participate in medical research.

Archives of disease in childhood·2026

National variations within the timings of transport to paediatric intensive care from 2018 to 2022: a cohort study.

Archives of disease in childhood·2026

Long-term outcome of pediatric anti-complement factor H antibody-associated atypical hemolytic uremic syndrome receiving abbreviated plasma exchange: a retrospective study from a single center.

Journal of nephrology·2026

[Therapeutic apheresis in first-line treatment of hematological disorders - an evidence-based review].

Therapeutische Umschau. Revue therapeutique·2026

Same-day rescue plerixafor during leukapheresis is safe and effective in allogeneic donors suboptimally responding to granulocyte colony-stimulating factor mobilization.

Transfusion·2026

Platelet-erythrocyte complex production is exacerbated by histones and protected by small polyanion histone neutralizing compounds.

Platelets·2026

Changing the treatment paradigm in beta thalassemia.

Folia medica·2026

Noninvasive Thrombus Imaging in Patients With Ischemic Stroke.

Circulation·2026

Related Experiment Videos

Familial haemophagocytic reticulosis in first cousins

Related Concept Videos

Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene.

Cardiomyopathy in childhood, mitochondrial dysfunction, and the role of L-carnitine.

D-2-Hydroxyglutaric aciduria: biochemical marker or clinical disease entity?

Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0.

Inborn errors of metabolism: medical and administrative "orphans".

Outcome of pyruvate dehydrogenase deficiency treated with ketogenic diets. Studies in patients with identical mutations.

Texture and nutrient content of commercial baby foods supplied in spouted pouches, compared to other packaging.

High oral corticosteroid use during acute attacks of preschool wheeze irrespective of clinical phenotype.

Medicines for children and young people who seek support around gender: a horizon scanning study of the emerging medicines pipeline.

Impacts of vaping on children and young people: a systematic review.

Informed, autonomous and safe: a qualitative study describing the views of English adolescents on consent to participate in medical research.

National variations within the timings of transport to paediatric intensive care from 2018 to 2022: a cohort study.

Long-term outcome of pediatric anti-complement factor H antibody-associated atypical hemolytic uremic syndrome receiving abbreviated plasma exchange: a retrospective study from a single center.

[Therapeutic apheresis in first-line treatment of hematological disorders - an evidence-based review].

Same-day rescue plerixafor during leukapheresis is safe and effective in allogeneic donors suboptimally responding to granulocyte colony-stimulating factor mobilization.

Platelet-erythrocyte complex production is exacerbated by histones and protected by small polyanion histone neutralizing compounds.

Changing the treatment paradigm in beta thalassemia.

Noninvasive Thrombus Imaging in Patients With Ischemic Stroke.

Related Experiment Videos

Familial haemophagocytic reticulosis in first cousins

Related Concept Videos

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