Results 181 to 190 of about 54,872 (236)

Acute Neurological Complications After Transplantation in Methylmalonic Acidemia: A 35‐Patient French Cohort

open access: yesJournal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Transplantation is an effective therapeutic option to improve quality of life in patients with severe methylmalonic acidemia (MMA). However, data regarding neurological complications following transplantation remain limited. A retrospective, single‐center study was conducted at Necker Hospital (France), including MMA patients who underwent ...
Adélaïde Vissac   +25 more
wiley   +1 more source

Mitochondrial Dysfunction in Propionic Acidemia: A Case‐Report and Review of the Literature

open access: yesJIMD Reports, Volume 67, Issue 2, March 2026.
ABSTRACT Propionic acidemia is an inborn error of metabolism involving an enzymatic defect of propionyl‐CoA carboxylase that results in the build‐up of toxic metabolites which can induce metabolic decompensation. Secondary mitochondrial dysfunction in propionic acidemia has been commonly recognized; however, its clinical presentation and management are
Brandon K. Walther   +5 more
wiley   +1 more source

The First 1000 Days: Maternal Nutrient Intake-A Window of Opportunity for Pulmonary Hypertension-A Narrative Review. [PDF]

open access: yesNutrients
Luca AC   +8 more
europepmc   +1 more source

Clinical Profiles, Genetic Variants, and Neurodevelopmental Outcomes Following Liver Transplantation in Maple Syrup Urine Disease: A Study From Palestine

open access: yesJIMD Reports, Volume 67, Issue 2, March 2026.
ABSTRACT Maple syrup urine disease (MSUD) is a rare, autosomal recessive metabolic disorder resulting from a deficiency of the branched‐chain α‐ketoacid dehydrogenase complex. This leads to the accumulation of branched‐chain amino acids and their corresponding ketoacids, causing acute metabolic crises and progressive neurological damage if untreated ...
Reham Khalaf‐Nazzal   +4 more
wiley   +1 more source

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