Biotin-responsive 3-methylcrotonylglycinuria with biotinidase deficiency

Cell therapy strategies for organ regeneration.

BMC medicine·2026

Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment.

Journal of inherited metabolic disease·2015

Hormones, body composition and cardiovascular risk.

Asia Pacific journal of clinical nutrition·2014

Is it possible to further improve the function of pulmonary grafts by extending the duration of lung reconditioning using ex vivo lung perfusion?

Perfusion·2013

Morphometric comparison of foramen magnum in non-syndromic craniosynostosis patients with or without Chiari I malformation.

Acta neurochirurgica·2012

Ophthalmological findings in children and young adults with genetically verified mitochondrial disease.

The British journal of ophthalmology·2010

From Common Pathway to Divergent Diseases: Metabolic Aspects of Inborn Errors of CoA Biosynthesis.

Journal of inherited metabolic disease·2026

Proteo-Metabolomic Profiling of PMM2-CDG Reveals Dysregulation of Retinoic Acid Synthesis, Myo-Inositol, and the Hexosamine Pathway.

Journal of inherited metabolic disease·2026

High-Protein Diet Ameliorates Cardiomyopathy in a Cardiac-Specific AGL Knockout Mouse Model: Association With Upregulated Hepatic Gluconeogenesis.

Journal of inherited metabolic disease·2026

Behavioral Phenotyping of the Pahenu2 Mouse Model for Phenylketonuria-A Scoping Review and Future Perspectives.

Journal of inherited metabolic disease·2026

Baat-Deficient Mice Recapitulate Elevated 7α-Hydroxy-3-Oxo-4-Cholestenoic Acid Observed in a Japanese Patient With BAAT Deficiency.

Journal of inherited metabolic disease·2026

Creatine Supplementation Reduces Guanidinoacetate via Downregulation of AGAT in a Mouse Model of GAMT Deficiency.

Journal of inherited metabolic disease·2026

Spectral characterization of advanced glycation end products in human hemoglobin, serum albumin, and erythrocytes.

Biomedical optics express·2026

Seasonal metabolic oscillation: adiposity cycling as a candidate amplifier of mood seasonality in seasonal affective and bipolar disorders.

Frontiers in psychiatry·2026

Storage-Induced Changes in Phenolic Profile and Antioxidant Capacity of Functional Blueberry Beverages Enriched With Propolis.

Food science & nutrition·2026

Glucose dose-dependently modulates antimicrobial peptide genes expression through the ERK/PI3K-NF-κB/FOXO signaling in Chinese mitten crab (Eriocheir sinensis).

Fish & shellfish immunology·2026

An XGBoost-based predictive framework for diabetes mellitus multi-classification.

Scientific reports·2026

Related Experiment Videos

Biotin-responsive 3-methylcrotonylglycinuria with biotinidase deficiency

Related Concept Videos

Cell therapy strategies for organ regeneration.

Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment.

Hormones, body composition and cardiovascular risk.

Is it possible to further improve the function of pulmonary grafts by extending the duration of lung reconditioning using ex vivo lung perfusion?

Morphometric comparison of foramen magnum in non-syndromic craniosynostosis patients with or without Chiari I malformation.

Ophthalmological findings in children and young adults with genetically verified mitochondrial disease.

From Common Pathway to Divergent Diseases: Metabolic Aspects of Inborn Errors of CoA Biosynthesis.

Proteo-Metabolomic Profiling of PMM2-CDG Reveals Dysregulation of Retinoic Acid Synthesis, Myo-Inositol, and the Hexosamine Pathway.

High-Protein Diet Ameliorates Cardiomyopathy in a Cardiac-Specific AGL Knockout Mouse Model: Association With Upregulated Hepatic Gluconeogenesis.

Behavioral Phenotyping of the Pahenu2 Mouse Model for Phenylketonuria-A Scoping Review and Future Perspectives.

Baat-Deficient Mice Recapitulate Elevated 7α-Hydroxy-3-Oxo-4-Cholestenoic Acid Observed in a Japanese Patient With BAAT Deficiency.

Creatine Supplementation Reduces Guanidinoacetate via Downregulation of AGAT in a Mouse Model of GAMT Deficiency.

Spectral characterization of advanced glycation end products in human hemoglobin, serum albumin, and erythrocytes.

Seasonal metabolic oscillation: adiposity cycling as a candidate amplifier of mood seasonality in seasonal affective and bipolar disorders.

Storage-Induced Changes in Phenolic Profile and Antioxidant Capacity of Functional Blueberry Beverages Enriched With Propolis.

Glucose dose-dependently modulates antimicrobial peptide genes expression through the ERK/PI3K-NF-κB/FOXO signaling in Chinese mitten crab (Eriocheir sinensis).

An XGBoost-based predictive framework for diabetes mellitus multi-classification.

Related Experiment Videos

Biotin-responsive 3-methylcrotonylglycinuria with biotinidase deficiency

Related Concept Videos

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