Results 201 to 210 of about 77,935 (264)
ABSTRACT Objective To evaluate selumetinib exposure using therapeutic drug monitoring (TDM) in pediatric patients with neurofibromatosis type 1 (NF1) and plexiform neurofibromas (PN), assess interpatient pharmacokinetic variability, and explore the relationship between drug exposure, clinical response, and adverse effects.
Janka Kovács +8 more
wiley +1 more source
Mapping early corpus callosum development to identify neurodevelopmental risk. [PDF]
Mao B, Zhang H, Wang H, Yang Z.
europepmc +1 more source
Germline TP53 Mutations Causing Diamond–Blackfan Anemia: A French Report
ABSTRACT Diamond–Blackfan anemia is a rare congenital erythroblastopenia typically caused by mutations in ribosomal protein genes. Recently, gain‐of‐function mutations in TP53 have been identified as a novel cause of Diamond–Blackfan anemia. We report two French patients who both harbored a heterozygous TP53 deletion (NM_000546.5: c.1077delA; p ...
Rafael Moisan +6 more
wiley +1 more source
Clinical Presentation of Agenesis of Corpus Callosum Among Children in a Single Tertiary Care Center in Riyadh, Saudi Arabia. [PDF]
Altwaijri W +5 more
europepmc +1 more source
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken +4 more
wiley +1 more source
Alien Hand Syndrome Secondary to Acute Anterior Corpus Callosum Infarction Despite Dual Antiplatelet Therapy: A Case Report. [PDF]
Kaleel I, Kaleel A.
europepmc +1 more source
Abstract INTRODUCTION Recent epidemiological datasets have associated viral encephalitis exposure (i.e., viral‐induced neuroinflammation) with increased risk of Alzheimer's disease (AD) and dementia, highlighting the need to uncover how it may impact AD neuropathology.
Dominic Ibarra Javonillo +10 more
wiley +1 more source
Cytotoxic lesion of the corpus callosum (CLOCC) associated with typhoid fever: A case report. [PDF]
El Azouzi M, Bentahar A, El Fikri A.
europepmc +1 more source
ABSTRACT Multiple carboxylase deficiency (MCD) is a rare, treatable inborn error of biotin metabolism that may present in children in the first year of life with life‐threatening metabolic crises. We report a 4‐month‐old child presenting with persistent seizures, eczematous rash near the orifices, unjustified loss of hair with baldness, and severe ...
Touqeer Rehman +8 more
wiley +1 more source
Corpus Callosum Structural Alterations in Essential Tremor with and Without Resting Tremor: A Multimodal MRI Study. [PDF]
Aquila VR +7 more
europepmc +1 more source

