Diagnosis of a novel glycogen storage disease: type 1aSP

Genetic variation in hepatic glucose-6-phosphatase system genes in cases of sudden infant death syndrome.

The Journal of pathology·2007

Dermcidin expression in hepatic cells improves survival without N-glycosylation, but requires asparagine residues.

British journal of cancer·2006

Glucose production in the human placenta.

Placenta·2006

Thyroid hormone potentiates glucocorticoid-evoked airway Na+ transport without affecting alpha-ENaC transcription.

FEBS letters·2004

Polymorphisms in genes involved in glucose metabolism in cases of sudden infant death syndrome.

Child: care, health and development·2003

Developmental disorders of glucose metabolism in infants.

Child: care, health and development·2003

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

Revisiting Enzyme Replacement Therapy for Aspartylglucosaminuria: Truncated Phosphotransferase Enhances Mannose-6-Phosphorylation and Cellular Uptake of Aspartylglucosaminidase.

Journal of inherited metabolic disease·2026

Phase 3 Randomized Trial Results of DTX401 AAV Gene Therapy for the Treatment of GSDIa.

Journal of inherited metabolic disease·2026

Prospective Evaluation of Single-Time-Point Methotrexate Monitoring During High-Dose Therapy in Pediatric Leukemias and Lymphomas.

Pediatric blood & cancer·2026

Elecsys pT181p immunoassay: Clinical performance for ruling out amyloid pathology.

Alzheimer's & dementia (Amsterdam, Netherlands)·2026

Clinical risk factors and machine learning-assisted interpretation of ureteral access sheath insertion failure: a multicenter study and meta-analysis.

Frontiers in surgery·2026

In-house designed Multiplex Real-Time PCR Assay Developed for Epstein - Barr virus and Cytomegalovirus DNA detection in Pooled Blood Samples from Iraqi blood donors.

F1000Research·2026

Mobile cone-beam computed tomography combined with electromagnetic navigation bronchoscopy for the diagnosis of peripheral pulmonary nodules.

Pulmonology·2026

Long-term cardiac remodeling after transjugular intrahepatic portosystemic shunt placement: a cardiac MRI study.

European radiology·2026

Related Experiment Videos

Diagnosis of a novel glycogen storage disease: type 1aSP

Related Concept Videos

Genetic variation in hepatic glucose-6-phosphatase system genes in cases of sudden infant death syndrome.

Dermcidin expression in hepatic cells improves survival without N-glycosylation, but requires asparagine residues.

Glucose production in the human placenta.

Thyroid hormone potentiates glucocorticoid-evoked airway Na+ transport without affecting alpha-ENaC transcription.

Polymorphisms in genes involved in glucose metabolism in cases of sudden infant death syndrome.

Developmental disorders of glucose metabolism in infants.

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.

Revisiting Enzyme Replacement Therapy for Aspartylglucosaminuria: Truncated Phosphotransferase Enhances Mannose-6-Phosphorylation and Cellular Uptake of Aspartylglucosaminidase.

Phase 3 Randomized Trial Results of DTX401 AAV Gene Therapy for the Treatment of GSDIa.

Prospective Evaluation of Single-Time-Point Methotrexate Monitoring During High-Dose Therapy in Pediatric Leukemias and Lymphomas.

Elecsys pT181p immunoassay: Clinical performance for ruling out amyloid pathology.

Clinical risk factors and machine learning-assisted interpretation of ureteral access sheath insertion failure: a multicenter study and meta-analysis.

In-house designed Multiplex Real-Time PCR Assay Developed for Epstein - Barr virus and Cytomegalovirus DNA detection in Pooled Blood Samples from Iraqi blood donors.

Mobile cone-beam computed tomography combined with electromagnetic navigation bronchoscopy for the diagnosis of peripheral pulmonary nodules.

Long-term cardiac remodeling after transjugular intrahepatic portosystemic shunt placement: a cardiac MRI study.

Related Experiment Videos

Diagnosis of a novel glycogen storage disease: type 1aSP

Related Concept Videos

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