Metabolic defect in arthrogryposis multiplex congenita with renal and hepatic abnormalities

Enhancing cranial nerves and cauda equina: an emerging magnetic resonance imaging pattern in metachromatic leukodystrophy and krabbe disease.

Neuropediatrics·2010

A randomized trial comparing the efficacy and safety of imiglucerase (Cerezyme) infusions every 4 weeks versus every 2 weeks in the maintenance therapy of adult patients with Gaucher disease type 1.

Molecular genetics and metabolism·2009

Clinical and molecular features of mitochondrial DNA depletion syndromes.

Journal of inherited metabolic disease·2009

Neuroimaging findings in malignant infantile osteopetrosis due to OSTM1 mutations.

Neuropediatrics·2007

Testicular sperm extraction in azoospermic men submitted to bilateral orchidopexy.

Human reproduction (Oxford, England)·2003

LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.

Cell·2001

Assessing Teaching and Tomorrow, a Trainee Pathway Program in Pediatric Gastroenterology.

The Journal of pediatrics·2026

Development of Perinatal Social Determinants of Health Composite Risk Score in Infants Born Preterm.

The Journal of pediatrics·2026

Long-Term Outcomes of Expectant Management Versus Early Ibuprofen for Patent Ductus Arteriosus: 24-Month Follow-Up of the BeNeDuctus Trial.

The Journal of pediatrics·2026

Infection Triggered Encephalopathies in Australian Children: A National Multicentre Case Series 2013-2024.

The Journal of pediatrics·2026

The Evolving Legal Landscape of Necrotizing Enterocolitis in Neonatology: What Years of Litigation Inform us About the Future.

The Journal of pediatrics·2026

Trends in Emergency Department Visits for Children, 2016-2023.

The Journal of pediatrics·2026

Nutraceutical administration targeting energy metabolism and antioxidant defences improves spermiogram and biochemical quality of seminal plasma of infertile males in a pilot study.

International journal of food sciences and nutrition·2026

Integrating the liver into the cardiovascular-kidney-metabolic syndrome: pathophysiology and therapeutic implications.

Current opinion in nephrology and hypertension·2026

Endogenous spermidine biosynthesis contributes to fetal liver megakaryopoiesis and platelet production in mice.

Platelets·2026

Mac-2 Binding Protein Glycosylation Isomer (M2BPGi)-Based Risk Stratification Refined by Tumor Metabolic Activity in Hepatocellular Carcinoma.

Annals of gastroenterological surgery·2026

Bile acid-axis dysregulation in MASLD/MASH progression: from metabolic mismatch to inflammatory-fibrotic remodeling.

Frontiers in medicine·2026

Skeletal muscle mitochondrial-methylation-neurotransmitter crosstalk: a novel synergistic model of betaine, tyrosine, and Cordyceps for exercise performance in older adults, individuals with metabolic disorders, and healthy populations.

Frontiers in nutrition·2026

Related Experiment Videos

Metabolic defect in arthrogryposis multiplex congenita with renal and hepatic abnormalities

Related Concept Videos

Enhancing cranial nerves and cauda equina: an emerging magnetic resonance imaging pattern in metachromatic leukodystrophy and krabbe disease.

A randomized trial comparing the efficacy and safety of imiglucerase (Cerezyme) infusions every 4 weeks versus every 2 weeks in the maintenance therapy of adult patients with Gaucher disease type 1.

Clinical and molecular features of mitochondrial DNA depletion syndromes.

Neuroimaging findings in malignant infantile osteopetrosis due to OSTM1 mutations.

Testicular sperm extraction in azoospermic men submitted to bilateral orchidopexy.

LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.

Assessing Teaching and Tomorrow, a Trainee Pathway Program in Pediatric Gastroenterology.

Development of Perinatal Social Determinants of Health Composite Risk Score in Infants Born Preterm.

Long-Term Outcomes of Expectant Management Versus Early Ibuprofen for Patent Ductus Arteriosus: 24-Month Follow-Up of the BeNeDuctus Trial.

Infection Triggered Encephalopathies in Australian Children: A National Multicentre Case Series 2013-2024.

The Evolving Legal Landscape of Necrotizing Enterocolitis in Neonatology: What Years of Litigation Inform us About the Future.

Trends in Emergency Department Visits for Children, 2016-2023.

Nutraceutical administration targeting energy metabolism and antioxidant defences improves spermiogram and biochemical quality of seminal plasma of infertile males in a pilot study.

Integrating the liver into the cardiovascular-kidney-metabolic syndrome: pathophysiology and therapeutic implications.

Endogenous spermidine biosynthesis contributes to fetal liver megakaryopoiesis and platelet production in mice.

Mac-2 Binding Protein Glycosylation Isomer (M2BPGi)-Based Risk Stratification Refined by Tumor Metabolic Activity in Hepatocellular Carcinoma.

Bile acid-axis dysregulation in MASLD/MASH progression: from metabolic mismatch to inflammatory-fibrotic remodeling.

Skeletal muscle mitochondrial-methylation-neurotransmitter crosstalk: a novel synergistic model of betaine, tyrosine, and Cordyceps for exercise performance in older adults, individuals with metabolic disorders, and healthy populations.

Related Experiment Videos

Metabolic defect in arthrogryposis multiplex congenita with renal and hepatic abnormalities

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