Non-kinetic hyperglycinaemia: prolonged survival in a patient with a mild variant

Long-Term Cognitive and Functional Outcomes in Children with Mucopolysaccharidosis (MPS)-IH (Hurler Syndrome) Treated with Hematopoietic Cell Transplantation.

JIMD reports·2016

Mucopolysaccharidosis type I.

Pediatric endocrinology reviews : PER·2014

Developmental outcome post allogenic bone marrow transplant for Niemann Pick Type C2.

Molecular genetics and metabolism·2012

Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy.

Journal of inherited metabolic disease·2012

Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C.

Neurology·2012

Female mucopolysaccharidosis IIIA mice exhibit hyperactivity and a reduced sense of danger in the open field test.

PloS one·2011

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

Correction to: Cerebral Foreign Body Granulomatous Reaction Secondary to Hydrophilic Polymer Embolization Post-Mechanical Thrombectomy: A Case Report and Overview of Differential Diagnosis.

Stroke (Hoboken, N.J.)·2026

Characterisation of the Novel HLA-A*03:541 Allele by Next-Generation Sequencing.

HLA·2026

Microaxial Flow Pump Thrombosis Presenting as Predominant Direct Hyperbilirubinemia.

JACC. Case reports·2026

Metachronous Bilateral Ruptured True Deep Femoral Artery Aneurysms: A Case Report.

Annals of vascular diseases·2026

Correction: Apa et al. Ultrasonic Surgical Aspirator in Intramedullary Spinal Cord Tumours Treatment: A Simulation Study of Vibration and Temperature Field. Bioengineering 2025, 12, 842.

Bioengineering (Basel, Switzerland)·2026

A Rare Rescue Case of Post-biopsy Pseudoaneurysm Treated by Direct Percutaneous Glue Injection after Failed Embolization.

Interventional radiology (Higashimatsuyama-shi (Japan)·2026

Related Experiment Videos

Non-kinetic hyperglycinaemia: prolonged survival in a patient with a mild variant

Related Concept Videos

Long-Term Cognitive and Functional Outcomes in Children with Mucopolysaccharidosis (MPS)-IH (Hurler Syndrome) Treated with Hematopoietic Cell Transplantation.

Mucopolysaccharidosis type I.

Developmental outcome post allogenic bone marrow transplant for Niemann Pick Type C2.

Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy.

Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C.

Female mucopolysaccharidosis IIIA mice exhibit hyperactivity and a reduced sense of danger in the open field test.

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.

Correction to: Cerebral Foreign Body Granulomatous Reaction Secondary to Hydrophilic Polymer Embolization Post-Mechanical Thrombectomy: A Case Report and Overview of Differential Diagnosis.

Characterisation of the Novel HLA-A*03:541 Allele by Next-Generation Sequencing.

Microaxial Flow Pump Thrombosis Presenting as Predominant Direct Hyperbilirubinemia.

Metachronous Bilateral Ruptured True Deep Femoral Artery Aneurysms: A Case Report.

Correction: Apa et al. Ultrasonic Surgical Aspirator in Intramedullary Spinal Cord Tumours Treatment: A Simulation Study of Vibration and Temperature Field. Bioengineering 2025, 12, 842.

A Rare Rescue Case of Post-biopsy Pseudoaneurysm Treated by Direct Percutaneous Glue Injection after Failed Embolization.

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Non-kinetic hyperglycinaemia: prolonged survival in a patient with a mild variant

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