Methylenetetrahydrofolate reductase in cultured human cells. I. Growtha and metabolic studies

Newborn screening for X-linked adrenoleukodystrophy in New York State: diagnostic protocol, surveillance protocol and treatment guidelines.

Molecular genetics and metabolism·2015

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

Update on transcobalamin deficiency: clinical presentation, treatment and outcome.

Journal of inherited metabolic disease·2013

Transcobalamin (TC) deficiency--potential cause of bone marrow failure in childhood.

Journal of inherited metabolic disease·2008

Mitochondrial vitamin B12-binding proteins in patients with inborn errors of cobalamin metabolism.

Molecular genetics and metabolism·2006

A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria.

Human mutation·2006

Stool biomarkers discriminate confirmed necrotizing enterocolitis in preterm infants.

Pediatric research·2026

Isocaloric substitution of animal-based protein with plant-based protein and academic performance in Spanish adolescents: The EHDLA study.

Pediatric research·2026

Impact of altered heme oxygenase-1 in caring for preterm neonates: navigating the unknown.

Pediatric research·2026

Persistent postnatal alterations in microRNA expression in neonatal encephalopathy.

Pediatric research·2026

A complementary proteomics and cardiac magnetic resonance approach to characterize right ventricular remodeling after tetralogy of Fallot repair.

Pediatric research·2026

Collaborative role of muscle ultrasonography and subjective global-nutritional assessment in pediatric end-stage renal disease.

Pediatric research·2026

Elevated Adenosine Kinase and Decreased ENTPD1 mRNA Levels in Peripheral Blood Leukocytes of Patients with MASLD Differentiate Metabolic Dysfunction-Associated Steatohepatitis from Hepatic Steatosis.

Diseases (Basel, Switzerland)·2026

Phase 1b study of miricorilant in patients with presumed metabolic dysfunction-associated steatohepatitis (MASH).

Hepatology (Baltimore, Md.)·2026

Assessment of Glucose Metabolism in Vivo in the Human Frontal Lobe Using Interleaved 1H and 13C MRS at 7T.

Journal of magnetic resonance imaging : JMRI·2026

Endohepatology in the Management of Portal Hypertension in Metabolic Dysfunction-Associated Steatotic Liver Disease.

Liver international : official journal of the International Association for the Study of the Liver·2026

Roles of macrophages in tumor immunotherapy: metabolism, immune checkpoints, and combination strategies.

Journal of Zhejiang University. Science. B·2026

[Attention to the diagnosis and treatment of non-cirrhotic hyperammonemic encephalopathy after bariatric surgery].

Zhonghua wei chang wai ke za zhi = Chinese journal of gastrointestinal surgery·2026

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Methylenetetrahydrofolate reductase in cultured human cells. I. Growtha and metabolic studies

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Newborn screening for X-linked adrenoleukodystrophy in New York State: diagnostic protocol, surveillance protocol and treatment guidelines.

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

Update on transcobalamin deficiency: clinical presentation, treatment and outcome.

Transcobalamin (TC) deficiency--potential cause of bone marrow failure in childhood.

Mitochondrial vitamin B12-binding proteins in patients with inborn errors of cobalamin metabolism.

A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria.

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Isocaloric substitution of animal-based protein with plant-based protein and academic performance in Spanish adolescents: The EHDLA study.

Impact of altered heme oxygenase-1 in caring for preterm neonates: navigating the unknown.

Persistent postnatal alterations in microRNA expression in neonatal encephalopathy.

A complementary proteomics and cardiac magnetic resonance approach to characterize right ventricular remodeling after tetralogy of Fallot repair.

Collaborative role of muscle ultrasonography and subjective global-nutritional assessment in pediatric end-stage renal disease.

Elevated Adenosine Kinase and Decreased ENTPD1 mRNA Levels in Peripheral Blood Leukocytes of Patients with MASLD Differentiate Metabolic Dysfunction-Associated Steatohepatitis from Hepatic Steatosis.

Phase 1b study of miricorilant in patients with presumed metabolic dysfunction-associated steatohepatitis (MASH).

Assessment of Glucose Metabolism in Vivo in the Human Frontal Lobe Using Interleaved 1H and 13C MRS at 7T.

Endohepatology in the Management of Portal Hypertension in Metabolic Dysfunction-Associated Steatotic Liver Disease.

Roles of macrophages in tumor immunotherapy: metabolism, immune checkpoints, and combination strategies.

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Methylenetetrahydrofolate reductase in cultured human cells. I. Growtha and metabolic studies

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