Long Chain 3 Hydroxyacyl Coa Dehydrogenase (lchad) Deficiency - Neonatal Disorders

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Relevant Publications

Cardiac phenotype in adolescents and young adults with long-chain 3-hydroxyacyl CoA dehydrogenase (LCHAD) deficiency.

Issue Release: 2024

Mitochondrial bioenergetics and cardiolipin remodeling abnormalities in mitochondrial trifunctional protein deficiency.

Issue Release: 2024

Ophthalmic Symptoms of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency: A Report of Three Cases.

Issue Release: 2024

The LCHADD Mouse Model Recapitulates Early-Stage Chorioretinopathy in LCHADD Patients.

Issue Release: 2024

New Acylcarnitine Ratio as a Reliable Indicator of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency.

Issue Release: 2023

An Autopsy Analysis of a Patient With Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency Caused by Compound Heterozygous HADHA Gene Mutations.

Issue Release: 2023

\'Small\' data, isolated populations, and new categories of rare diseases in Finland and Poland.

Issue Release: 2023

Outcomes and genotype correlations in patients with mitochondrial trifunctional protein or isolated long chain 3-hydroxyacyl-CoA dehydrogenase deficiency enrolled in the IBEM-IS database.

Issue Release: 2022

CHOROIDAL NEOVASCULARIZATION ASSOCIATED WITH LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY.

Issue Release: 2022

Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate treatment experience and cardiac evaluation using speckle echocardiography.

Issue Release: 2022

A 24-Year-Old Woman Presenting in the Third Trimester of Pregnancy with Nausea, Vomiting, and Abdominal Pain and Diagnosed with Acute Fatty Liver of Pregnancy.

Issue Release: 2022

Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands.

Issue Release: 2022

Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency and progressive retinopathy: one case report followed by ERGs, VEPs, EOG over a 17-year period.

Issue Release: 2021

Different Lipid Signature in Fibroblasts of Long-Chain Fatty Acid Oxidation Disorders.

Issue Release: 2021

The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional protein.

Issue Release: 2021

Evidence that Oxidative Disbalance and Mitochondrial Dysfunction are Involved in the Pathophysiology of Fatty Acid Oxidation Disorders.

Issue Release: 2020

Evaluation of earlier versus later dietary management in long-chain 3-hydroxyacyl-CoA dehydrogenase or mitochondrial trifunctional protein deficiency: a systematic review.

Issue Release: 2019

High vulnerability of the heart and liver to 3-hydroxypalmitic acid-induced disruption of mitochondrial functions in intact cell systems.

Issue Release: 2018

Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency.

Issue Release: 2018

Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening.

Issue Release: 2018

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