Letter: Incidence of homocystinuria

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.

Journal of medical genetics·2013

The management of pregnancy in maple syrup urine disease: experience with two patients.

JIMD reports·2013

The mild form of menkes disease: a 34 year progress report on the original case.

JIMD reports·2013

Mapping spatial and field dependence of magnetic domain memory by soft X-ray speckle metrology.

Journal of synchrotron radiation·2012

An improved ultra performance liquid chromatography-tandem mass spectrometry method for the determination of alloisoleucine and branched chain amino acids in dried blood samples.

Annals of clinical biochemistry·2011

3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy.

Neurology·2010

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

Liposuction versus conservative therapy for patients with lipoedema in Germany: a multicentre, randomised controlled clinical trial.

Lancet (London, England)·2026

Targeted left ventricular lead placement in biventricular pacing for heart failure: a national, multicentre, double-blind, randomised controlled trial in Denmark.

Lancet (London, England)·2026

Catheter ablation for symptomatic atrial fibrillation (PVI-SHAM-AF): a randomised, double-blind, sham-controlled, multicentre trial.

Lancet (London, England)·2026

Cardiovascular disease in pregnancy: physiology, global burden, risk stratification, and opportunities in care.

Lancet (London, England)·2026

Homometallic dual-site Co/Ni-polyoxometalates with water-assisted proton channel for boosting nitrate-to-ammonia electrocatalysis: decoupling active hydrogen generation from nitrate reduction.

Journal of colloid and interface science·2026

Halide regulation of Co-centred interfacial water in MnCo2O4.5 for acidic oxygen evolution.

Chemical communications (Cambridge, England)·2026

Back diffusion of a Th-230-Ra-226 decay chain in a multilayer fractured-rock matrix with stagnant-zone and skin effects.

Journal of contaminant hydrology·2026

Pore fluid pH-salinity homogenization for sustained electroosmosis: Performance, energy efficiency and underlying mechanisms.

Journal of environmental management·2026

Exploring the Interplay of Oceanic Tides and Rainfall in Flood Susceptibility in an Exorheic Basin.

Anais da Academia Brasileira de Ciencias·2026

Oxygen Serves as an Electron Acceptor for Efficient Photocatalytic Acetylene Hydrochlorination in Seawater.

Angewandte Chemie (International ed. in English)·2026

Related Experiment Videos

Letter: Incidence of homocystinuria

Related Concept Videos

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.

The management of pregnancy in maple syrup urine disease: experience with two patients.

The mild form of menkes disease: a 34 year progress report on the original case.

Mapping spatial and field dependence of magnetic domain memory by soft X-ray speckle metrology.

An improved ultra performance liquid chromatography-tandem mass spectrometry method for the determination of alloisoleucine and branched chain amino acids in dried blood samples.

3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy.

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

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

Liposuction versus conservative therapy for patients with lipoedema in Germany: a multicentre, randomised controlled clinical trial.

Targeted left ventricular lead placement in biventricular pacing for heart failure: a national, multicentre, double-blind, randomised controlled trial in Denmark.

Catheter ablation for symptomatic atrial fibrillation (PVI-SHAM-AF): a randomised, double-blind, sham-controlled, multicentre trial.

Cardiovascular disease in pregnancy: physiology, global burden, risk stratification, and opportunities in care.

Homometallic dual-site Co/Ni-polyoxometalates with water-assisted proton channel for boosting nitrate-to-ammonia electrocatalysis: decoupling active hydrogen generation from nitrate reduction.

Halide regulation of Co-centred interfacial water in MnCo2O4.5 for acidic oxygen evolution.

Back diffusion of a Th-230-Ra-226 decay chain in a multilayer fractured-rock matrix with stagnant-zone and skin effects.

Pore fluid pH-salinity homogenization for sustained electroosmosis: Performance, energy efficiency and underlying mechanisms.

Exploring the Interplay of Oceanic Tides and Rainfall in Flood Susceptibility in an Exorheic Basin.

Oxygen Serves as an Electron Acceptor for Efficient Photocatalytic Acetylene Hydrochlorination in Seawater.

Related Experiment Videos

Letter: Incidence of homocystinuria

Related Concept Videos

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