Results 221 to 230 of about 10,731,599 (368)

Appendicitis in Children: Evaluation of the Pediatric Appendicitis Score in Younger and Older Children [PDF]

open access: hybrid, 2014
Martin Salö   +4 more
openalex   +1 more source

Diagnostic Utility of the ATG9A Ratio in AP‐4–Associated Hereditary Spastic Paraplegia

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adaptor protein complex 4–associated hereditary spastic paraplegia (AP‐4‐HSP), a childhood‐onset neurogenetic disorder and frequent mimic of cerebral palsy, is caused by biallelic variants in the adaptor protein complex 4 (AP‐4) subunit genes (AP4B1 [for SPG47], AP4M1 [for SPG50], AP4E1 [for SPG51], and AP4S1 [for SPG52]).
Habibah A. P. Agianda   +12 more
wiley   +1 more source

P388: Noonan syndrome associated with a homozygous deep intronic variant in LZTR1 gene confirmed by RNA sequencing

open access: yesGenetics in Medicine Open
Lucie Dupuis   +5 more
doaj   +1 more source

Effect of indoor air quality of day care centers in children with different predisposition for asthma [PDF]

open access: bronze, 2015
Pedro Martins   +10 more
openalex   +1 more source

Traumatic Microhemorrhages Are Not Synonymous With Axonal Injury

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Diffuse axonal injury (DAI) is caused by acceleration‐deceleration forces during trauma that shear white matter tracts. Susceptibility‐weighted MRI (SWI) identifies microbleeds that are considered the radiologic hallmark of DAI and are used in clinical prognostication.
Karinn Sytsma   +9 more
wiley   +1 more source

Clinically Relevant Outcome Measures in Women With Adrenoleukodystrophy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adrenoleukodystrophy is a rare inherited peroxisomal disease caused by pathogenic variants in the ABCD1 gene located on the X chromosome. Although the most severe central nervous system and adrenal complications typically affect only men with adrenoleukodystrophy, the majority of women develop myeloneuropathy symptoms in adulthood.
Chenwei Yan   +3 more
wiley   +1 more source

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