First trimester prenatal diagnosis of glycogen storage disease type III

[Contribution of the measurement of globotriaosylceramide in urine to the diagnosis and follow-up of Fabry disease].

La Revue de medecine interne·2011

[Contribution of genotyping in Fabry's disease].

La Revue de medecine interne·2011

Phenotypic spectrum of fucosidosis in Tunisia.

Journal of inherited metabolic disease·2008

Dilative arteriopathy and basilar artery dolichoectasia complicating late-onset Pompe disease.

Neurology·2008

[Current development and usefulness of biomarkers for Gaucher disease follow up].

La Revue de medecine interne·2008

[Molecular analysis of the p.Asn 370 Ser mutation in Gaucher disease].

Pathologie-biologie·2008

Longitudinal Assessment of Cognitive Development in 23 Patients With Mucopolysaccharidosis (MPS) Type II: Results of up to 14 Years of Follow-Up.

Journal of inherited metabolic disease·2026

Distinct Urea Cycle Dysfunction Profiles Differentiate Acute Metabolic Decompensation in TMEM70 and MT-ATP6-Related Mitochondrial ATP Synthase Defects.

Journal of inherited metabolic disease·2026

Sarcopenia in Pediatric Intoxication Type Inborn Errors of Metabolism: A Frequent and Underrecognized Condition.

Journal of inherited metabolic disease·2026

Genome Editing for Glycogen Storage Diseases.

Journal of inherited metabolic disease·2026

Results From a Phase 2, Open-Label Study Evaluating the Safety, Tolerability, and Effect on Ataxia of GLM101 in Three Adult Patients With PMM2-CDG.

Journal of inherited metabolic disease·2026

Mitochondrial CLPP in Health and Disease: Mechanisms, Therapeutic Duality and Emerging Opportunities.

Journal of inherited metabolic disease·2026

Genetic divergence between reservoir and pre-therapy plasma HIV-1 Env variants does not confer consistent compartment-specific differences in broadly neutralizing antibody sensitivity.

Journal of virology·2026

Diabetes related genetics and outcomes after total pancreatectomy with islet autotransplantation.

The Journal of clinical endocrinology and metabolism·2026

Genetic variant profile in a cohort of inherited bone marrow failure patients from North india.

Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion·2026

Appreciating diversity: a review of the Iranian genomic landscape.

European journal of human genetics : EJHG·2026

The role of ferroptosis in juvenile idiopathic arthritis: Causal inference and mediation by immune phenotypes.

Medicine·2026

Generation and characterization of an isogenic gene-corrected iPSC line CARIMi009-A-1 from a Hutchinson-Gilford Progeria Syndrome (HGPS) patient with a heterozygous G608G mutation in the LMNA gene.

Stem cell research·2026

Related Experiment Videos

First trimester prenatal diagnosis of glycogen storage disease type III

Related Concept Videos

[Contribution of the measurement of globotriaosylceramide in urine to the diagnosis and follow-up of Fabry disease].

[Contribution of genotyping in Fabry's disease].

Phenotypic spectrum of fucosidosis in Tunisia.

Dilative arteriopathy and basilar artery dolichoectasia complicating late-onset Pompe disease.

[Current development and usefulness of biomarkers for Gaucher disease follow up].

[Molecular analysis of the p.Asn 370 Ser mutation in Gaucher disease].

Longitudinal Assessment of Cognitive Development in 23 Patients With Mucopolysaccharidosis (MPS) Type II: Results of up to 14 Years of Follow-Up.

Distinct Urea Cycle Dysfunction Profiles Differentiate Acute Metabolic Decompensation in TMEM70 and MT-ATP6-Related Mitochondrial ATP Synthase Defects.

Sarcopenia in Pediatric Intoxication Type Inborn Errors of Metabolism: A Frequent and Underrecognized Condition.

Genome Editing for Glycogen Storage Diseases.

Results From a Phase 2, Open-Label Study Evaluating the Safety, Tolerability, and Effect on Ataxia of GLM101 in Three Adult Patients With PMM2-CDG.

Mitochondrial CLPP in Health and Disease: Mechanisms, Therapeutic Duality and Emerging Opportunities.

Genetic divergence between reservoir and pre-therapy plasma HIV-1 Env variants does not confer consistent compartment-specific differences in broadly neutralizing antibody sensitivity.

Diabetes related genetics and outcomes after total pancreatectomy with islet autotransplantation.

Genetic variant profile in a cohort of inherited bone marrow failure patients from North india.

Appreciating diversity: a review of the Iranian genomic landscape.

The role of ferroptosis in juvenile idiopathic arthritis: Causal inference and mediation by immune phenotypes.

Generation and characterization of an isogenic gene-corrected iPSC line CARIMi009-A-1 from a Hutchinson-Gilford Progeria Syndrome (HGPS) patient with a heterozygous G608G mutation in the LMNA gene.

Related Experiment Videos

First trimester prenatal diagnosis of glycogen storage disease type III

Related Concept Videos

Related Articles