Prenatal diagnosis for metabolic disorder

Farber lipogranulomatosis type 1--late presentation and early death in a Croatian boy with a novel homozygous ASAH1 mutation.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society·2010

The natural history of Niemann-Pick disease type C in the UK.

Journal of inherited metabolic disease·2006

Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group.

American journal of human genetics·2001

Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop.

American journal of human genetics·2001

Biallelic discrimination assays for the three common Ashkenazi Jewish mutations and a common non-Jewish mutation, in Tay-Sachs disease, using fluorogenic TaqMan probes.

Genetic testing·2001

Sandhoff disease in Cyprus: population screening by biochemical and DNA analysis indicates a high frequency of carriers in the Maronite community.

Human genetics·2000

1-month versus 12-month dual antithrombotic therapy after percutaneous coronary intervention in patients with atrial fibrillation (OPTIMA-AF): a multicentre, open-label, hybrid non-inferiority and superiority, randomised, controlled trial.

Lancet (London, England)·2026

Multidomain lifestyle intervention for the prevention of cognitive decline in at-risk older adults in Latin America (LatAm-FINGERS): a single-blind, multicentre, randomised controlled trial.

Lancet (London, England)·2026

Advancing the relevance of clinical trials for older patients.

Lancet (London, England)·2026

Temocillin versus carbapenems for bacteraemia due to third-generation cephalosporin-resistant Enterobacterales in Spain (ASTARTÉ): a multicentre, phase 3, open-label, non-inferiority, randomised clinical trial.

Lancet (London, England)·2026

Fixed-duration pirtobrutinib plus venetoclax-rituximab versus venetoclax-rituximab for patients with previously treated chronic lymphocytic leukaemia or small lymphocytic lymphoma (BRUIN CLL-322): an open-label, multicentre, randomised, controlled, phase 3 trial.

Lancet (London, England)·2026

Children in all policies: lessons from a global collaboration to promote the health and wellbeing of children and future generations.

Lancet (London, England)·2026

Dynamic OGTT-Derived Indices Outperform Fasting HOMA-2 for Detecting Dysglycemia in Transfusion-Dependent β-Thalassemia.

Mediterranean journal of hematology and infectious diseases·2026

Orchestrating the gut microbiota-mitochondrial-immune axis in gynecological diseases: mechanisms and dual-targeting therapeutic strategies.

Frontiers in reproductive health·2026

Association of the cholesterol-HDL-glucose index with prevalent metabolic dysfunction-associated steatotic liver disease and its incremental metabolic-hepatic assessment value: a hospital-based cross-sectional study.

Frontiers in nutrition·2026

Single-cell reanalysis identifies macrophage-associated transcriptional and intercellular communication features in diabetic foot ulcers.

Frontiers in cellular and infection microbiology·2026

Exploring the connection between life's crucial 9 and metabolic syndrome: the weight-adjusted waist index as a mediating factor.

Journal of health, population, and nutrition·2026

Point shear wave elastography for non-invasive detection of advanced fibrosis in metabolic dysfunction-associated steatotic liver disease: a prospective histologically validated study.

BMC gastroenterology·2026

Related Experiment Videos

Prenatal diagnosis for metabolic disorder

Related Concept Videos

Farber lipogranulomatosis type 1--late presentation and early death in a Croatian boy with a novel homozygous ASAH1 mutation.

The natural history of Niemann-Pick disease type C in the UK.

Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group.

Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop.

Biallelic discrimination assays for the three common Ashkenazi Jewish mutations and a common non-Jewish mutation, in Tay-Sachs disease, using fluorogenic TaqMan probes.

Sandhoff disease in Cyprus: population screening by biochemical and DNA analysis indicates a high frequency of carriers in the Maronite community.

1-month versus 12-month dual antithrombotic therapy after percutaneous coronary intervention in patients with atrial fibrillation (OPTIMA-AF): a multicentre, open-label, hybrid non-inferiority and superiority, randomised, controlled trial.

Multidomain lifestyle intervention for the prevention of cognitive decline in at-risk older adults in Latin America (LatAm-FINGERS): a single-blind, multicentre, randomised controlled trial.

Advancing the relevance of clinical trials for older patients.

Temocillin versus carbapenems for bacteraemia due to third-generation cephalosporin-resistant Enterobacterales in Spain (ASTARTÉ): a multicentre, phase 3, open-label, non-inferiority, randomised clinical trial.

Fixed-duration pirtobrutinib plus venetoclax-rituximab versus venetoclax-rituximab for patients with previously treated chronic lymphocytic leukaemia or small lymphocytic lymphoma (BRUIN CLL-322): an open-label, multicentre, randomised, controlled, phase 3 trial.

Children in all policies: lessons from a global collaboration to promote the health and wellbeing of children and future generations.

Dynamic OGTT-Derived Indices Outperform Fasting HOMA-2 for Detecting Dysglycemia in Transfusion-Dependent β-Thalassemia.

Orchestrating the gut microbiota-mitochondrial-immune axis in gynecological diseases: mechanisms and dual-targeting therapeutic strategies.

Association of the cholesterol-HDL-glucose index with prevalent metabolic dysfunction-associated steatotic liver disease and its incremental metabolic-hepatic assessment value: a hospital-based cross-sectional study.

Single-cell reanalysis identifies macrophage-associated transcriptional and intercellular communication features in diabetic foot ulcers.

Exploring the connection between life's crucial 9 and metabolic syndrome: the weight-adjusted waist index as a mediating factor.

Point shear wave elastography for non-invasive detection of advanced fibrosis in metabolic dysfunction-associated steatotic liver disease: a prospective histologically validated study.

Related Experiment Videos

Prenatal diagnosis for metabolic disorder

Related Concept Videos

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