3-Methyladipate excretion in Refsum's disease

A complex multisystem disorder including hypopituitarism and hypoparathyroidism, associated with mutation in the gene encoding fatty acid synthase (FASN).

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Successful reversal of propionic acidaemia associated cardiomyopathy: evidence for low myocardial coenzyme Q10 status and secondary mitochondrial dysfunction as an underlying pathophysiological mechanism.

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A putative exonic splicing enhancer in exon 7 of the PDHA1 gene affects splicing of adjacent exons.

Human mutation·2008

Aortic stenosis in cardiovascular ochronosis.

Journal of clinical pathology·2007

The significance of a high plasma ammonia value.

Archives of disease in childhood·2004

Hypoketotic hypofattyacidaemic hypoinsulinaemic hypoglycaemia in a child with hemihypertrophy? A new syndrome.

Hormone research·2004

1-month versus 12-month dual antithrombotic therapy after percutaneous coronary intervention in patients with atrial fibrillation (OPTIMA-AF): a multicentre, open-label, hybrid non-inferiority and superiority, randomised, controlled trial.

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Advancing the relevance of clinical trials for older patients.

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Lancet (London, England)·2026

Children in all policies: lessons from a global collaboration to promote the health and wellbeing of children and future generations.

Lancet (London, England)·2026

Genome-wide identification, evolutionary dynamics, and abiotic stress response networks of the magnesium transporter gene family in foxtail millet (Setaria italica L.).

Frontiers in plant science·2026

First evidence of keratinolytic activity in Simplicillium aogashimaense isolated from wool-pellet-amended soil.

Microbial cell factories·2026

Functional instant tea from black tea waste fiber: effects of extraction conditions on bioactive composition and in vitro anticancer activity.

Frontiers in nutrition·2026

Advanced beneficiation of quartz ore for high-purity silica production.

Scientific reports·2026

Enhanced uranium immobilization from carbonate-rich water by Bacillus pasteurii via protein-induced phosphate biomineralization.

Water research·2026

Erratum: Advancing hypoparathyroidism treatment: FDA approval of Palopegteriparatide as a promising orphan drug: Erratum.

Annals of medicine and surgery (2012)·2026

Related Experiment Videos

3-Methyladipate excretion in Refsum's disease

Related Concept Videos

A complex multisystem disorder including hypopituitarism and hypoparathyroidism, associated with mutation in the gene encoding fatty acid synthase (FASN).

Successful reversal of propionic acidaemia associated cardiomyopathy: evidence for low myocardial coenzyme Q10 status and secondary mitochondrial dysfunction as an underlying pathophysiological mechanism.

A putative exonic splicing enhancer in exon 7 of the PDHA1 gene affects splicing of adjacent exons.

Aortic stenosis in cardiovascular ochronosis.

The significance of a high plasma ammonia value.

Hypoketotic hypofattyacidaemic hypoinsulinaemic hypoglycaemia in a child with hemihypertrophy? A new syndrome.

1-month versus 12-month dual antithrombotic therapy after percutaneous coronary intervention in patients with atrial fibrillation (OPTIMA-AF): a multicentre, open-label, hybrid non-inferiority and superiority, randomised, controlled trial.

Multidomain lifestyle intervention for the prevention of cognitive decline in at-risk older adults in Latin America (LatAm-FINGERS): a single-blind, multicentre, randomised controlled trial.

Advancing the relevance of clinical trials for older patients.

Temocillin versus carbapenems for bacteraemia due to third-generation cephalosporin-resistant Enterobacterales in Spain (ASTARTÉ): a multicentre, phase 3, open-label, non-inferiority, randomised clinical trial.

Fixed-duration pirtobrutinib plus venetoclax-rituximab versus venetoclax-rituximab for patients with previously treated chronic lymphocytic leukaemia or small lymphocytic lymphoma (BRUIN CLL-322): an open-label, multicentre, randomised, controlled, phase 3 trial.

Children in all policies: lessons from a global collaboration to promote the health and wellbeing of children and future generations.

Genome-wide identification, evolutionary dynamics, and abiotic stress response networks of the magnesium transporter gene family in foxtail millet (Setaria italica L.).

First evidence of keratinolytic activity in Simplicillium aogashimaense isolated from wool-pellet-amended soil.

Functional instant tea from black tea waste fiber: effects of extraction conditions on bioactive composition and in vitro anticancer activity.

Advanced beneficiation of quartz ore for high-purity silica production.

Enhanced uranium immobilization from carbonate-rich water by Bacillus pasteurii via protein-induced phosphate biomineralization.

Erratum: Advancing hypoparathyroidism treatment: FDA approval of Palopegteriparatide as a promising orphan drug: Erratum.

Related Experiment Videos

3-Methyladipate excretion in Refsum's disease

Related Concept Videos

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