L-3-hydroxyacyl-CoA dehydrogenase deficiency: two cases with pigmentary retinopathy

Developing and validating models for predicting nursing home admission using only RAI-HC instrument data.

Informatics for health & social care·2019

Novel non-neutral mitochondrial DNA mutations found in childhood acute lymphoblastic leukemia.

Clinical genetics·2017

A homozygous I684T in GLE1 as a novel cause of arthrogryposis and motor neuron loss.

Clinical genetics·2017

Comparison of health patterns in two geochemically contrasted areas of northern Finland.

Environmental geochemistry and health·2013

HLA associations with tubulointerstitial nephritis with or without uveitis in Finnish pediatric population: a nation-wide study.

Tissue antigens·2013

Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease.

Journal of medical genetics·2011

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

Treating a Disorder Caused by an Overactive Enzyme: BCKD-Kinase Deficiency.

Journal of inherited metabolic disease·2026

[Blink patterns in mild thyroid-associated ophthalmopathy-related dry eye and their association with tear film stability].

Zhonghua yi xue za zhi·2026

Publication Volume and Fellowship Characteristics Are Associated With Future Academic Faculty Appointments in Pediatric Orthopaedic Surgery.

Journal of pediatric orthopedics·2026

Ophthalmological Abnormalities in Cases with Intracranial Aneurysms: A Retrospective Referral-Based Study.

Clinical ophthalmology (Auckland, N.Z.)·2026

Geographic distribution and coverage of neuro-ophthalmologists in Brazil.

Arquivos brasileiros de oftalmologia·2026

Component-Level Cost and Variability Drivers of Intradetrusor OnabotulinumtoxinA Injections Across Office and Operating Room Settings.

Urology practice·2026

Semiology of Opercular Epilepsies.

Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society·2026

Related Experiment Videos

L-3-hydroxyacyl-CoA dehydrogenase deficiency: two cases with pigmentary retinopathy

Related Concept Videos

Developing and validating models for predicting nursing home admission using only RAI-HC instrument data.

Novel non-neutral mitochondrial DNA mutations found in childhood acute lymphoblastic leukemia.

A homozygous I684T in GLE1 as a novel cause of arthrogryposis and motor neuron loss.

Comparison of health patterns in two geochemically contrasted areas of northern Finland.

HLA associations with tubulointerstitial nephritis with or without uveitis in Finnish pediatric population: a nation-wide study.

Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease.

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.

Treating a Disorder Caused by an Overactive Enzyme: BCKD-Kinase Deficiency.

[Blink patterns in mild thyroid-associated ophthalmopathy-related dry eye and their association with tear film stability].

Publication Volume and Fellowship Characteristics Are Associated With Future Academic Faculty Appointments in Pediatric Orthopaedic Surgery.

Ophthalmological Abnormalities in Cases with Intracranial Aneurysms: A Retrospective Referral-Based Study.

Geographic distribution and coverage of neuro-ophthalmologists in Brazil.

Component-Level Cost and Variability Drivers of Intradetrusor OnabotulinumtoxinA Injections Across Office and Operating Room Settings.

Semiology of Opercular Epilepsies.

Related Experiment Videos

L-3-hydroxyacyl-CoA dehydrogenase deficiency: two cases with pigmentary retinopathy

Related Concept Videos

Related Articles