Prenatal diagnosis of homocystinuria

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

Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data.

Journal of inherited metabolic disease·2014

Development and pilot testing of an integrated, web-based self-management program for irritable bowel syndrome (IBS).

Neurogastroenterology and motility·2014

Chemotherapy and remission status do not alter pre-existing innate immune dysfunction in dogs with lymphoma.

Research in veterinary science·2014

Heavy alcohol use as a risk factor for severe outcomes among adults hospitalized with laboratory-confirmed influenza, 2005-2012.

Infection·2013

Effect of opioids on CXCL-8 production in healthy cats.

Research in veterinary science·2012

Use of the bacterial lysate OM-85 for the primary prevention of wheezing lower respiratory illness in preschool children: a randomised, placebo-controlled trial.

Lancet (London, England)·2026

Wealth redistribution policies to mitigate the impact of development assistance defunding: a retrospective evaluation and forecasting analysis up to 2030.

Lancet (London, England)·2026

Induction and consolidation atezolizumab with stereotactic body radiation therapy versus radiation alone in high-risk, early-stage non-small-cell lung cancer (SWOG/NRG S1914): a multicentre, open-label, superiority, phase 3, randomised controlled trial.

Lancet (London, England)·2026

The changing therapeutic landscape of small-cell lung cancer.

Lancet (London, England)·2026

Natural history and clinical impact of epilepsy in adults with Down syndrome: a multicentre clinical study.

Lancet (London, England)·2026

Porcine kidney xenotransplantation as a bridge to allotransplantation: a first-in-human study.

Lancet (London, England)·2026

Cryptic and Overt Acute Kidney Injury Share Biomarker Characteristics in Pediatric Acute Respiratory Distress Syndrome.

Critical care explorations·2026

Admission blood gas, platelet, and inflammatory parameters associated with intraventricular hemorrhage in preterm infants: a retrospective case-control study.

Open medicine (Warsaw, Poland)·2026

Case Report: Successful hematopoietic stem cell transplantation in pediatric pyruvate kinase deficiency: a single-center Asian case series demonstrating favorable outcomes.

Frontiers in immunology·2026

Perinatal, socioenvironmental, and neurological factors to predict motor delay in infants born preterm.

Developmental medicine and child neurology·2026

Patient-Derived iPSC-MSC Modelling Reveals Reversible GSK3-Mediated Suppression of Mesenchymal Lineage Differentiation in Legg-Calvé-Perthes Disease.

Journal of cellular and molecular medicine·2026

The Establishment of a Simplified Clinical Scoring System for Neurodevelopmental Follow-Up and Its Application in Very Preterm Infants.

Child: care, health and development·2026

Related Experiment Videos

Prenatal diagnosis of homocystinuria

Related Concept Videos

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

Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data.

Development and pilot testing of an integrated, web-based self-management program for irritable bowel syndrome (IBS).

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Prenatal diagnosis of homocystinuria

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