Results 251 to 260 of about 106,917 (289)

Sexual Dysfunction and Its Relationship With Hypogonadism and Myelopathy in Male Patients With X‐Linked Adrenoleukodystrophy

open access: yesJournal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT X‐linked adrenoleukodystrophy (ALD) is a genetic disorder with neurological and endocrine manifestations, including myelopathy and hypergonadotropic hypogonadism. Many patients experience sexual dysfunction but the underlying cause has not been clarified.
Stephanie I. W. van de Stadt   +4 more
wiley   +1 more source

MEK-SHP2 inhibition prevents tibial pseudarthrosis caused by NF1 loss in Schwann cells and skeletal stem/progenitor cells

open access: green
Simon Perrin   +20 more
openalex   +2 more sources

YAP and TAZ control peripheral myelination and the expression of laminin receptors in Schwann cells

open access: green, 2016
Yannick Poitelon   +16 more
openalex   +2 more sources

Peripheral Neuropathy Expands the Neurological Phenotype in Glutaric Aciduria Type 1

open access: yesJournal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Glutaric aciduria type 1 (GA1) is a neurometabolic disorder characterized by striatal injury in infancy and extrastriatal central nervous system abnormalities, the latter depending on the biochemical subtype. Whether the peripheral nervous system (PNS) is also affected has not been systematically studied.
Fabian Preisner   +8 more
wiley   +1 more source

GMPPB‐CDG Results in Lysosomal Dysfunction and Acid Alpha‐Glucosidase Deficiency

open access: yesJournal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT GDP‐mannose pyrophosphorylase B (GMPPB) deficiency is a congenital disorder of glycosylation due to pathogenic variants of the GMPPB gene. GMPPB catalyzes GDP‐mannose synthesis, an early step in multiple glycosylation pathways, including N‐glycosylation, O‐mannosylation, C‐mannosylation, and glycosylphosphatidylinositol‐anchor formation.
Carla Damiano   +20 more
wiley   +1 more source

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