Results 171 to 180 of about 5,291,503 (235)

International Guideline on the Diagnosis, Treatment, and Monitoring of Long‐Chain Fatty Acid Oxidation Disorders (LC‐FAOD)

open access: yesJournal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
ABSTRACT Long‐chain fatty acid oxidation disorders (LC‐FAOD) are rare inherited defects of mitochondrial β‐oxidation that impair energy generation during fasting or metabolic stress. Clinical manifestations range from neonatal hypoketotic hypoglycemia and cardiomyopathy to hepatopathy, recurrent rhabdomyolysis, and chronic myopathy.
Sarah C. Grünert   +37 more
wiley   +1 more source

Does classical semiology ("5As") predict post-operative seizure outcome in patients with temporal lobe epilepsy? [PDF]

open access: yesEpileptic Disord
Radhakrishnan A   +10 more
europepmc   +1 more source

Unmasking Mucopolysaccharidosis Type I in a Patient With Wolf–Hirschhorn Syndrome: Diagnostic Overshadowing

open access: yesJIMD Reports, Volume 67, Issue 5, September 2026.
ABSTRACT Mucopolysaccharidosis Type I (MPS I) is a rare lysosomal storage disorder caused by α‐l‐iduronidase deficiency, leading to glycosaminoglycan accumulation and multisystem involvement. Wolf–Hirschhorn Syndrome (WHS) is a chromosomal disorder characterized by growth delay, dysmorphism, and developmental impairment.
Karla Cifuentes‐Uribe   +4 more
wiley   +1 more source

Clinical Manifestations Associated With RT‐PCR–Confirmed Zika Virus Infection Among Adults With Acute Rash in the Brazilian Amazon: A Cross‐Sectional Study

open access: yesJournal of Medical Virology, Volume 98, Issue 9, September 2026.
ABSTRACT Zika virus (ZIKV) infection remains a diagnostic challenge in regions where multiple arboviruses co‐circulate, particularly when laboratory testing is limited. Identifying distinguishing clinical features is therefore relevant for early case recognition. We conducted a cross‐sectional study including 1124 adults presenting with acute exanthema
Djane Clarys Baía‐da‐Silva   +8 more
wiley   +1 more source

CSNK2B-associated epilepsy: family report and literature review. [PDF]

open access: yesActa Epileptol
Zhang J   +6 more
europepmc   +1 more source

N. Paul Rosman, M.D. (1934–2026)

open access: yes
Annals of the Child Neurology Society, Volume 4, Issue 3, Page 172-174, September 2026.
Alcy Torres   +3 more
wiley   +1 more source

Admission‐Time Clinicolaboratory Phenotypes for Early Differentiation of Severe Fever With Thrombocytopenia Syndrome and Hemorrhagic Fever With Renal Syndrome

open access: yesJournal of Medical Virology, Volume 98, Issue 9, September 2026.
ABSTRACT Early differentiation of severe fever with thrombocytopenia syndrome (SFTS) and hemorrhagic fever with renal syndrome (HFRS) remains difficult in endemic settings. In this single‐center retrospective comparative study, we analyzed admission‐time demographic, clinical, and laboratory data from 330 hospitalized patients with laboratory‐confirmed
Ruize Ma   +7 more
wiley   +1 more source

Levels of IL-1β and IL-1 receptor antagonist (IL-1Ra) in Moroccan children admitted to the pediatric emergency department for febrile seizures. [PDF]

open access: yesBMC Pediatr
Abbari I   +8 more
europepmc   +1 more source

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