A family with Leigh syndrome caused by the rarer T8993C mutation

Prospective analysis of 30-day postoperative adverse events in skull base surgery: insights into risk factors and mitigation strategies from a neurosurgical tertiary care center.

Neurosurgical review·2025

Pyruvate carboxylase deficiency type C; variable presentation and beneficial effect of triheptanoin.

JIMD reports·2024

Green room temperature synthesis of silver-gold alloy nanoparticles.

Nanoscale advances·2023

Hypomorphic RAG deficiency: impact of disease burden on survival and thymic recovery argues for early diagnosis and HSCT.

Blood·2022

Clinical perspectives, immunohematologic insights, and transfusion management in IgA-associated autoimmune hemolytic anemia.

Immunohematology·2022

Multidimensional characterization of noble metal alloy nanoparticles by multiwavelength analytical ultracentrifugation.

Nanoscale·2022

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

Identification of the Novel HLA-DPB1*1965:01 Allele Using PacBio Sequencing Technology.

HLA·2026

Identification of the HLA-DQB1*03:626 Allele in Two Individuals in a Western Indian Family.

HLA·2026

Sporadic Retinal Astrocytic Hamartoma Mimicking Retinoblastoma in a Child: A Case Report and Literature Review.

Clinical case reports·2026

Primary Care Recognition of Rabson-Mendenhall Syndrome Despite Absence of Classical Diabetic Symptoms.

The American journal of case reports·2026

Characterisation of the Novel HLA-A*32:207 Allele by Sequencing-Based Typing.

HLA·2026

Discovery of the Novel HLA-DQB1*05:386 Allele in a Brazilian Volunteer Donor.

HLA·2026

Related Experiment Videos

A family with Leigh syndrome caused by the rarer T8993C mutation

Related Concept Videos

Prospective analysis of 30-day postoperative adverse events in skull base surgery: insights into risk factors and mitigation strategies from a neurosurgical tertiary care center.

Pyruvate carboxylase deficiency type C; variable presentation and beneficial effect of triheptanoin.

Green room temperature synthesis of silver-gold alloy nanoparticles.

Hypomorphic RAG deficiency: impact of disease burden on survival and thymic recovery argues for early diagnosis and HSCT.

Clinical perspectives, immunohematologic insights, and transfusion management in IgA-associated autoimmune hemolytic anemia.

Multidimensional characterization of noble metal alloy nanoparticles by multiwavelength analytical ultracentrifugation.

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.

Identification of the Novel HLA-DPB1*1965:01 Allele Using PacBio Sequencing Technology.

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Related Experiment Videos

A family with Leigh syndrome caused by the rarer T8993C mutation

Related Concept Videos

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