Results 171 to 180 of about 14,270 (287)

The utility of whole exome sequencing in diagnosing Wilson disease: A case report

open access: yesJPGN Reports, EarlyView.
Abstract Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by mutations in the ATP7B gene, resulting in toxic copper accumulation in the body. Diagnosis is typically based on biochemistries, including low serum ceruloplasmin and elevated 24‐h urine copper excretion, with Kayser–Fleischer (KF) rings being a supportive ...
Mihir J. Palan   +4 more
wiley   +1 more source

Functional constipation in children and young adults with Prader–Willi syndrome

open access: yesJPGN Reports, EarlyView.
Abstract Objectives Prader–Willi Syndrome (PWS) is characterized by hyperphagia, endocrinopathies, and gastrointestinal abnormalities. Clinical concerns about constipation and fecal incontinence (FI) are common, but no studies to date have clear data on functional defecation disorders in children with PWS.
Melinda J. Pierce   +3 more
wiley   +1 more source

Predictors of Teenage Fatherhood Among Justice-Involved Adolescents. [PDF]

open access: yesInt J Environ Res Public Health
McGoldrick N   +5 more
europepmc   +1 more source

Setting the Record Straight: The Intellectual Legacy of H. Igor Ansoff (1918–2002)

open access: yesStrategic Change, EarlyView.
ABSTRACT This study presents a comprehensive annotated bibliography of H. Igor Ansoff's intellectual contributions, addressing significant gaps in existing citation databases such as Scopus and Web of Science, which capture only 9 to 15 percent of his work.
Richard W. Puyt
wiley   +1 more source

MDSGene Systematic Review of Common Forms of Dominant Hereditary Spastic Paraplegia: Novel Insights

open access: yesMovement Disorders Clinical Practice, EarlyView.
Abstract Background Hereditary spastic paraplegia (HSP) is a neurodegenerative disorder characterized by progressive spasticity and lower limb weakness. The most common forms of autosomal dominant HSP are caused by pathogenic variants in SPAST (SPG4 or HSP‐SPAST), ATL1 (SPG3A or HSP‐ATL1), and REEP1 (SPG31 or HSP‐REEP1).
Ce Kang   +24 more
wiley   +1 more source

Real‐World Safety and Effectiveness of Glatiramer Acetate in Patients With Multiple Sclerosis: Final Results of Post‐Marketing Surveillance in Japan

open access: yesNeurology and Clinical Neuroscience, EarlyView.
ABSTRACT Background Glatiramer acetate is an injectable disease‐modifying therapy indicated for multiple sclerosis (MS). Aim To evaluate the real‐world safety and effectiveness of glatiramer acetate for MS in Japan. Methods A prospective, multicenter, observational, all‐case post‐marketing survey was conducted in Japan between November 2015 and March ...
Masaaki Niino   +3 more
wiley   +1 more source

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