Acetylcholinesterase in Hirschsprung's disease

Trifunctional protein deficiency: three families with significant maternal hepatic dysfunction in pregnancy not associated with E474Q mutation.

Journal of inherited metabolic disease·2001

Five cases of isolated glycerol kinase deficiency, including two families: failure to find genotype:phenotype correlation.

Journal of medical genetics·2000

Compound heterozygosity for a Wolman mutation is frequent among patients with cholesteryl ester storage disease.

Journal of lipid research·2000

Infant cerebellar gray and white matter fatty acids in relation to age and diet.

Lipids·1999

Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders.

Human mutation·1999

Generalised uridine diphosphate galactose-4-epimerase deficiency.

Archives of disease in childhood·1999

[177Lu]Lu-PSMA-617 in patients with PSMA-positive metastatic androgen pathway modulator-naive/sensitive prostate cancer (PSMAddition): a phase 3 randomised, controlled trial.

Lancet (London, England)·2026

Multivessel coronary artery bypass grafting via small thoracotomy versus sternotomy (MIST): an investigator-initiated, international, open-label, randomised controlled trial.

Lancet (London, England)·2026

Efficacy and safety of once-weekly subcutaneous zenagamtide, a novel unimolecular GLP-1 and amylin receptor agonist, in type 2 diabetes: a multicentre, randomised, parallel, double-blind, placebo-controlled, dose-finding, phase 2 trial.

Lancet (London, England)·2026

Efficacy and safety of once-daily oral zenagamtide, a novel unimolecular GLP-1 and amylin receptor agonist, in adults with type 2 diabetes: a multicentre, randomised, parallel, double-blind, placebo-controlled, dose-finding, phase 2 trial.

Lancet (London, England)·2026

Operando insight into hydrogen crossover suppression by locking hydrophilic nanodomains in proton exchange membranes during water electrolysis.

Chemical communications (Cambridge, England)·2026

Massive Inferior Vena Cava Thrombosis and Pulmonary Embolism Secondary to Hepatic Hydatid Cyst: A Fatal Case.

The American journal of case reports·2026

Surface Hydroxyl-Promoted Visible-Light Activation of Peroxymonosulfate by ZnAl-LDH for Water Purification: Mechanistic Insights and Ecological Assessment.

Environmental research·2026

Development and external validation of a machine learning model based on multimodal dynamic data for predicting shunt-dependent hydrocephalus after aneurysmal subarachnoid hemorrhage: a dual-center retrospective cohort study.

Frontiers in neurology·2026

Fluorine-Coordination Facilitated Interfacial Hydrolysis Builds Dual Sites for Efficient H2O2 Homolysis on FeOF.

Small (Weinheim an der Bergstrasse, Germany)·2026

Delayed transanal extrusion of a ventriculoperitoneal shunt in an adult patient: A rare delayed gastrointestinal complication following post-hemorrhagic hydrocephalus.

Surgical neurology international·2026

Related Experiment Videos

Acetylcholinesterase in Hirschsprung's disease

Related Concept Videos

Trifunctional protein deficiency: three families with significant maternal hepatic dysfunction in pregnancy not associated with E474Q mutation.

Five cases of isolated glycerol kinase deficiency, including two families: failure to find genotype:phenotype correlation.

Compound heterozygosity for a Wolman mutation is frequent among patients with cholesteryl ester storage disease.

Infant cerebellar gray and white matter fatty acids in relation to age and diet.

Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders.

Generalised uridine diphosphate galactose-4-epimerase deficiency.

[177Lu]Lu-PSMA-617 in patients with PSMA-positive metastatic androgen pathway modulator-naive/sensitive prostate cancer (PSMAddition): a phase 3 randomised, controlled trial.

Multivessel coronary artery bypass grafting via small thoracotomy versus sternotomy (MIST): an investigator-initiated, international, open-label, randomised controlled trial.

Efficacy and safety of once-weekly subcutaneous zenagamtide, a novel unimolecular GLP-1 and amylin receptor agonist, in type 2 diabetes: a multicentre, randomised, parallel, double-blind, placebo-controlled, dose-finding, phase 2 trial.

Efficacy and safety of once-daily oral zenagamtide, a novel unimolecular GLP-1 and amylin receptor agonist, in adults with type 2 diabetes: a multicentre, randomised, parallel, double-blind, placebo-controlled, dose-finding, phase 2 trial.

Operando insight into hydrogen crossover suppression by locking hydrophilic nanodomains in proton exchange membranes during water electrolysis.

Massive Inferior Vena Cava Thrombosis and Pulmonary Embolism Secondary to Hepatic Hydatid Cyst: A Fatal Case.

Surface Hydroxyl-Promoted Visible-Light Activation of Peroxymonosulfate by ZnAl-LDH for Water Purification: Mechanistic Insights and Ecological Assessment.

Development and external validation of a machine learning model based on multimodal dynamic data for predicting shunt-dependent hydrocephalus after aneurysmal subarachnoid hemorrhage: a dual-center retrospective cohort study.

Fluorine-Coordination Facilitated Interfacial Hydrolysis Builds Dual Sites for Efficient H2O2 Homolysis on FeOF.

Delayed transanal extrusion of a ventriculoperitoneal shunt in an adult patient: A rare delayed gastrointestinal complication following post-hemorrhagic hydrocephalus.

Related Experiment Videos

Acetylcholinesterase in Hirschsprung's disease

Related Concept Videos

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