Inborn errors of metabolism. Variability within single diseases

Failure to confirm abnormal copper utilization in crinkler (cr) mice.

Biological trace element research·2013

Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and hawkinsinuria.

Molecular genetics and metabolism·2000

Analysis of the distribution of Cu, Fe and Zn and other elements in brindled mouse kidney using a scanning proton microprobe.

Journal of inorganic biochemistry·1998

Mutations of the flavin-containing monooxygenase gene (FMO3) cause trimethylaminuria, a defect in detoxication.

Human molecular genetics·1998

Early treatment of Menkes disease with parenteral copper-histidine: long-term follow-up of four treated patients.

American journal of medical genetics·1998

DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient.

Human mutation·1997

The Relationship Between Life Satisfaction, Psychological Resilience, and Burnout in Mothers of Disabled Children.

Clinical pediatrics·2026

Exploring Communities: Use of Windshield Surveys in Pediatric Residency Education.

Clinical pediatrics·2026

Utility of E-Nose in Paediatric Respiratory Diseases Using Machine Learning Approach: A Pilot Study.

Clinical pediatrics·2026

Effect of Preferred Language on Pediatric Rapid Response Activation and Subsequent Intensive Care Utilization.

Clinical pediatrics·2026

Documented Caregiver Report of Wheezing at Home is Associated With Decreased Length of Pediatric Asthma Hospitalizations.

Clinical pediatrics·2026

Virtual Reality Education for Hospitalized Pediatric Patients Improves Intrinsic Motivation: A Prospective, Randomized Crossover Study.

Clinical pediatrics·2026

Dynamic OGTT-Derived Indices Outperform Fasting HOMA-2 for Detecting Dysglycemia in Transfusion-Dependent β-Thalassemia.

Mediterranean journal of hematology and infectious diseases·2026

Orchestrating the gut microbiota-mitochondrial-immune axis in gynecological diseases: mechanisms and dual-targeting therapeutic strategies.

Frontiers in reproductive health·2026

Association of the cholesterol-HDL-glucose index with prevalent metabolic dysfunction-associated steatotic liver disease and its incremental metabolic-hepatic assessment value: a hospital-based cross-sectional study.

Frontiers in nutrition·2026

Single-cell reanalysis identifies macrophage-associated transcriptional and intercellular communication features in diabetic foot ulcers.

Frontiers in cellular and infection microbiology·2026

Exploring the connection between life's crucial 9 and metabolic syndrome: the weight-adjusted waist index as a mediating factor.

Journal of health, population, and nutrition·2026

Point shear wave elastography for non-invasive detection of advanced fibrosis in metabolic dysfunction-associated steatotic liver disease: a prospective histologically validated study.

BMC gastroenterology·2026

Related Experiment Videos

Inborn errors of metabolism. Variability within single diseases

Related Concept Videos

Failure to confirm abnormal copper utilization in crinkler (cr) mice.

Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and hawkinsinuria.

Analysis of the distribution of Cu, Fe and Zn and other elements in brindled mouse kidney using a scanning proton microprobe.

Mutations of the flavin-containing monooxygenase gene (FMO3) cause trimethylaminuria, a defect in detoxication.

Early treatment of Menkes disease with parenteral copper-histidine: long-term follow-up of four treated patients.

DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient.

The Relationship Between Life Satisfaction, Psychological Resilience, and Burnout in Mothers of Disabled Children.

Exploring Communities: Use of Windshield Surveys in Pediatric Residency Education.

Utility of E-Nose in Paediatric Respiratory Diseases Using Machine Learning Approach: A Pilot Study.

Effect of Preferred Language on Pediatric Rapid Response Activation and Subsequent Intensive Care Utilization.

Documented Caregiver Report of Wheezing at Home is Associated With Decreased Length of Pediatric Asthma Hospitalizations.

Virtual Reality Education for Hospitalized Pediatric Patients Improves Intrinsic Motivation: A Prospective, Randomized Crossover Study.

Dynamic OGTT-Derived Indices Outperform Fasting HOMA-2 for Detecting Dysglycemia in Transfusion-Dependent β-Thalassemia.

Orchestrating the gut microbiota-mitochondrial-immune axis in gynecological diseases: mechanisms and dual-targeting therapeutic strategies.

Association of the cholesterol-HDL-glucose index with prevalent metabolic dysfunction-associated steatotic liver disease and its incremental metabolic-hepatic assessment value: a hospital-based cross-sectional study.

Single-cell reanalysis identifies macrophage-associated transcriptional and intercellular communication features in diabetic foot ulcers.

Exploring the connection between life's crucial 9 and metabolic syndrome: the weight-adjusted waist index as a mediating factor.

Point shear wave elastography for non-invasive detection of advanced fibrosis in metabolic dysfunction-associated steatotic liver disease: a prospective histologically validated study.

Related Experiment Videos

Inborn errors of metabolism. Variability within single diseases

Related Concept Videos

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