Acta Paediatrica, Volume 114, Issue 8, Page 1857-1867, August 2025.ABSTRACT Aim To assess the prevalence of endocrine disorders and investigate growth patterns in single large‐scale mitochondrial DNA deletion syndromes (SLSMDs). Methods A retrospective study of all children with SLSMD who attended Sheba Medical Center, Israel, from February 2017 to September 2024.
Ayman Daka +7 more
wiley +1 more source
Expanding the Phenotypic Spectrum of SPG7 Rare Damaging Variants: Insights From a Hungarian Cohort
Clinical Genetics, Volume 108, Issue 2, Page 124-133, August 2025.Rare damaging SPG7 variants were detected in 58 patients with spastic paraplegia, ataxia, mitochondrial dysfunction, or motoneuron lesions. The cumulative prevalence of SPG7‐related conditions in Hungary was estimated. Phenotypic spectra and mitochondrial dysfunction were assessed in monoallelic and biallelic cases, contributing to the understanding of
Idris Janos Jimoh +10 more
wiley +1 more source
Disturbances of cardiac rhythm and conduction in familial amyloidosis with polyneuropathy.
, 1984 Peter Eriksson +3 more
openalex +1 more source
The Impact of Diabetes and Metabolic Syndrome Burden on Pain, Neuropathy Severity and Fiber Type
Annals of Clinical and Translational Neurology, Volume 12, Issue 7, Page 1408-1417, July 2025.ABSTRACT Objective Determine the association between diabetes and metabolic syndrome (MetS) burden (number of MetS criteria fulfilled) and pain, neuropathy severity, and fiber type involvement in individuals with established polyneuropathy. Methods The Peripheral Neuropathy Research Registry was queried for individuals with type 1 and type 2 diabetes ...
Long Davalos +13 more
wiley +1 more source
Characterizing Diagnostic Delays in Metachromatic Leukodystrophy: A Real‐World Data Approach
Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.ABSTRACT Neurodegeneration in metachromatic leukodystrophy (MLD) may be preceded by systemic complications. Characterization of these features is critical to define barriers to early diagnosis and treatment eligibility for gene therapy. We utilized medical billing (claims) datasets and a natural history study to capture pre‐diagnosis MLD‐related events.
Ali Mohajer +5 more
wiley +1 more source
What is the Next Step after an Electrodiagnostic Study in Children with Polyneuropathies? Rationale for Laboratory and Other Diagnostic Tests. [PDF]
Iran J Child Neurol, 2023 Babaee M +3 more
europepmc +1 more source
Polyneuropathy caused by chronic exposure to trichloroethylene.
, 1986 Yasuhiro Takeuchi +8 more
openalex +2 more sources
Plasma-exchange therapy in chronic inflammatory demyelinating polyneuropathy: A double-blind, sham-controlled, cross-over study [PDF]
, 1996 Angelika F. Hahn +8 more
openalex +1 more source
No silver lining with health misinformation: argyria caused by intentional silver consumption
Medical Journal of Australia, EarlyView.
Luke Collins +2 more
wiley +1 more source
Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.ABSTRACT Bile acid synthesis defects (BASDs) comprise a group of rare, often severe, metabolic disorders. Bile acid replacement therapy decreases toxic bile acid intermediates production and improves biochemical profiles, potentially delaying or stabilizing disease progression.
Yasmin Polak +8 more
wiley +1 more source