Defective biotin absorption in multiple carboxylase deficiency

Spectrum of NSD1 mutations in Sotos and Weaver syndromes.

Journal of medical genetics·2003

[Preimplantation genetic diagnosis and its psychological effects].

Journal de gynecologie, obstetrique et biologie de la reproduction·2003

Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3.

Journal of medical genetics·2003

Prenatal diagnosis of spinal muscular atrophy by genetic analysis of circulating fetal cells.

Lancet (London, England)·2003

Identification of seven novel mutations in the GAN gene.

Human mutation·2003

The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency.

Journal of medical genetics·2003

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.

Lancet (London, England)·2026

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.

Lancet (London, England)·2026

Advancing the relevance of clinical trials for older patients.

Lancet (London, England)·2026

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.

Lancet (London, England)·2026

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.

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

Association between the C-reactive protein-triglyceride-glucose index and the presence and prognosis of coronary microvascular dysfunction in patients with chronic coronary syndrome.

Frontiers in cardiovascular medicine·2026

Postprandial Metabolite and Antioxidant Kinetics Following Intake of a Carob Beverage in Healthy Males.

Nutrients·2026

Circulating β-Hydroxybutyrate in Glycemic Progression and Diabetic Cardiomyopathy: Adaptive Signal or Maladaptive Substrate?

International journal of molecular sciences·2026

Microbiota-dependent biotransformation of apiin drives butyrate-associated protection against colitis.

NPJ science of food·2026

Characteristics of gut microbiota structure and composition in diabetic patients from the Chaoshan region of China.

Journal of medical microbiology·2026

The Gluco-Vascular Injury Axis in Diabetic Cardiovascular Dysfunction: A Narrative Review.

Cureus·2026

Related Experiment Videos

Defective biotin absorption in multiple carboxylase deficiency

Related Concept Videos

Spectrum of NSD1 mutations in Sotos and Weaver syndromes.

[Preimplantation genetic diagnosis and its psychological effects].

Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3.

Prenatal diagnosis of spinal muscular atrophy by genetic analysis of circulating fetal cells.

Identification of seven novel mutations in the GAN gene.

The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency.

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.

Association between the C-reactive protein-triglyceride-glucose index and the presence and prognosis of coronary microvascular dysfunction in patients with chronic coronary syndrome.

Postprandial Metabolite and Antioxidant Kinetics Following Intake of a Carob Beverage in Healthy Males.

Circulating β-Hydroxybutyrate in Glycemic Progression and Diabetic Cardiomyopathy: Adaptive Signal or Maladaptive Substrate?

Microbiota-dependent biotransformation of apiin drives butyrate-associated protection against colitis.

Characteristics of gut microbiota structure and composition in diabetic patients from the Chaoshan region of China.

The Gluco-Vascular Injury Axis in Diabetic Cardiovascular Dysfunction: A Narrative Review.

Related Experiment Videos

Defective biotin absorption in multiple carboxylase deficiency

Related Concept Videos

Related Articles