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LPIN1 deficiency with severe recurrent rhabdomyolysis and persistent elevation of creatine kinase levels due to chromosome 2 maternal isodisomy.

Molecular genetics and metabolism reports·2017

Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation.

Clinical genetics·2017

Diversity of ARSACS mutations in French-Canadians.

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques·2012

Genetics, physiology and perinatal influences in childhood obesity: view from the Chair.

International journal of obesity (2005)·2009

Phenotypic variability among patients with hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome homozygous for the delF188 mutation in SLC25A15.

Journal of medical genetics·2008

Reduced brain choline in homocystinuria due to remethylation defects.

Neurology·2008

Phenotypic and glycosylation profiles of the FGG c.902G > A (p.Arg301His) mutation in a Chinese pedigree with congenital dysfibrinogenemia.

Thrombosis research·2026

Descriptive analysis of the Nationwide START2 antiphospholipid registry: Clinical and laboratory characteristics of patients with persistently positive antiphospholipid antibodies.

Thrombosis research·2026

Prevalence of iron deficiency in reproductive-age females on anticoagulation.

Thrombosis research·2026

Who says "no" - Patient-specific risk factors for refusal of venous thromboembolism chemoprophylaxis in hospitalized patients.

Thrombosis research·2026

Diverse antiphospholipid syndromes and beyond: A multicenter comprehensive analysis from the Egyptian College of Rheumatology.

Thrombosis research·2026

Risk of venous thromboembolism in first-degree relatives of affected patients compared with general population.

Thrombosis research·2026

Rapid screening of urinary tract infections: quantitative flow cytometry versus dipstick testing in a hospital cohort.

Infection·2026

An Integrated Cartridge-Based Multiplex Chemiluminescent Immunosensor Platform for the Simultaneous Quantification of Five Coagulation and Fibrinolysis Biomarkers.

Analytical chemistry·2026

Programmable One-Tube Sialic Acid Derivatization Enables Dual-Mode N-Glycomics of Low-Input Samples.

Analytical chemistry·2026

A novel objective olfactory assessment method based on nasal airflow changes following eugenol stimulation.

Acta oto-laryngologica·2026

Visualizing the Osteocyte Lacuno-Canalicular System via a Rapid 10-Minute Silver Nitrate Staining Method.

Bio-protocol·2026

Risk-based redesign of internal quality control procedures for emergency immunoassays in clinical laboratories: a multicenter study from China.

Frontiers in medicine·2026

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A sensitive fluorescent assay for determining alpha2-plasmin inhibitor using a synthetic substrate

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LPIN1 deficiency with severe recurrent rhabdomyolysis and persistent elevation of creatine kinase levels due to chromosome 2 maternal isodisomy.

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