Zellweger-like phenotype in two siblings: a defect in peroxisomal beta-oxidation with elevated very long-chain fatty acids but normal bile acids

A giant exoplanet orbiting a very-low-mass star challenges planet formation models.

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Expanding the MYBPC1 phenotypic spectrum: a novel homozygous mutation causes arthrogryposis multiplex congenita.

Clinical genetics·2015

Allogeneic hematopoietic SCT as treatment option for patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a consensus conference proposal for a standardized approach.

Bone marrow transplantation·2010

Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting.

Molecular genetics and metabolism·2007

Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapy.

American journal of human genetics·2007

Concentric bladder wall thickening due to haemorrhage following suprapubic aspiration: ultrasound and CT features.

The British journal of radiology·2007

Revisiting Inherited Metabolic Diseases (IMDs) Through the Lens of Selective Autophagy.

Journal of inherited metabolic disease·2026

Tailored Amino Acid Treatment for Pediatric Patients With Mitochondrial Aminoacyl-tRNA Synthetase Deficiencies.

Journal of inherited metabolic disease·2026

Dichloroacetate Improves Animal Survival, Growth, Neuromuscular Activity, Mitochondrial Stress and Physiology, and Elevated Lactate in C. elegans pdha-1 and dld-1 RNAi Models of Pyruvate Dehydrogenase Complex Deficiency (PDCD).

Journal of inherited metabolic disease·2026

Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency.

Journal of inherited metabolic disease·2026

Essential Oral Single Nutritional Therapy Products for Inherited Metabolic Diseases: Evidence and Consensus Assessment Using a Modified Delphi Method.

Journal of inherited metabolic disease·2026

Congenital Disorders of Glycosylation (CDG): State of the Art in 2026.

Journal of inherited metabolic disease·2026

From Adiposity to Diastolic Dysfunction: The Integrated Role of Epicardial Fat, Autonomic Dysregulation, and Morning Blood Pressure Surge in Obesity.

International journal of hypertension·2026

The hepato-thyroid axis in male obesity: unraveling inter-organ crosstalk through non-invasive biomarkers.

Journal of diabetes and metabolic disorders·2026

Clinical Implications of Interleukin-17 as a Hepato-Dermal Link in Patients With Psoriasis and Concomitant Steatotic Liver Disease.

Journal of cutaneous medicine and surgery·2026

MaltEms-MaltOBP9 axis mediates sexually dimorphic olfactory behavior in Monochamus alternatus via recognition of pheromone 2-methoxy-4-vinylphenol.

Insect biochemistry and molecular biology·2026

[Giant Scrotal Liposarcoma as Intraoperative Finding During an Inguinal Hernioplasty - A Case Report with Literature Review].

Zentralblatt fur Chirurgie·2026

Puerarin ameliorates obesity-induced spermatogenic dysfunction by restoring Sertoli cell glycolytic homeostasis.

Journal of reproductive immunology·2026

Related Experiment Videos

Zellweger-like phenotype in two siblings: a defect in peroxisomal beta-oxidation with elevated very long-chain fatty

Related Concept Videos

A giant exoplanet orbiting a very-low-mass star challenges planet formation models.

Expanding the MYBPC1 phenotypic spectrum: a novel homozygous mutation causes arthrogryposis multiplex congenita.

Allogeneic hematopoietic SCT as treatment option for patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a consensus conference proposal for a standardized approach.

Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting.

Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapy.

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Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency.

Essential Oral Single Nutritional Therapy Products for Inherited Metabolic Diseases: Evidence and Consensus Assessment Using a Modified Delphi Method.

Congenital Disorders of Glycosylation (CDG): State of the Art in 2026.

From Adiposity to Diastolic Dysfunction: The Integrated Role of Epicardial Fat, Autonomic Dysregulation, and Morning Blood Pressure Surge in Obesity.

The hepato-thyroid axis in male obesity: unraveling inter-organ crosstalk through non-invasive biomarkers.

Clinical Implications of Interleukin-17 as a Hepato-Dermal Link in Patients With Psoriasis and Concomitant Steatotic Liver Disease.

MaltEms-MaltOBP9 axis mediates sexually dimorphic olfactory behavior in Monochamus alternatus via recognition of pheromone 2-methoxy-4-vinylphenol.

[Giant Scrotal Liposarcoma as Intraoperative Finding During an Inguinal Hernioplasty - A Case Report with Literature Review].

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Related Experiment Videos

Zellweger-like phenotype in two siblings: a defect in peroxisomal beta-oxidation with elevated very long-chain fatty...

Related Concept Videos

Related Articles

Zellweger-like phenotype in two siblings: a defect in peroxisomal beta-oxidation with elevated very long-chain fatty