Results 131 to 140 of about 8,895 (193)

Coenzyme A in Brain Biology and Neurodegeneration. [PDF]

Biomedicines
Zhang D, Brett C, Cho J, Lashley T, Gout I.   +4 more
europepmc   +1 more source

Physiological Basis of Sex Differences in Human Performance and Exercise‐Associated Pathology

Clinical Endocrinology, EarlyView.
ABSTRACT The presence of sex differences in human physical performance is well‐established and shaped by distinct endocrine, anatomical and physiological mechanisms. Despite sustained advances, our understanding of how inherent biological factors drive variations in exercise capacity and related pathologies is still developing.
David A. Holdsworth, Thomas J. O'Leary, Craig L. Doig, Natalie Taylor, Jasminder Dosanjh, David R. Woods, Michael J. Stacey, Robert M. Gifford   +7 more
wiley   +1 more source

Genetic analysis of children with suspected immunodeficiency: mimickers of inborn errors of immunity. [PDF]

Eur J Pediatr
Yılmaz SY, Külhaş Çelik İ, Marzioğlu Özdemir E, Artaç H.   +3 more
europepmc   +1 more source

Obesity in Classic Congenital Adrenal Hyperplasia: Mechanisms, Complications and Management

Clinical Endocrinology, EarlyView.
ABSTRACT Classic congenital adrenal hyperplasia (CCAH) is an autosomal recessive genetic disorder primarily caused by 21‐hydroxylase deficiency. Although the survival rate of patients has significantly improved with glucocorticoid replacement therapy, long‐term use of supraphysiological doses and multiple factors inherent to the disease itself have led
Jialin Mu, Yue Li, Meng Sun, Yulin Li, Panpan Li, Hui Zou   +5 more
wiley   +1 more source

A Novel Variant in an Israeli Bedouin Family: The First Reported Cases of Carbonic Anhydrase VA (CA5A) Deficiency in Israel. [PDF]

Genes (Basel)
Abelson N, Kristal E, Hershkovitz E, Wormser O, Dolgin V, Amar S, Staretz-Chacham O.   +6 more
europepmc   +1 more source

Expanding Spectrum of FIG4‐Related Neurological Disorders of Lysosomal Homeostasis: Case Report and Overview of the Potential Genotype–Phenotype Correlations

Clinical Genetics, EarlyView.
FIG4 is essential for lysosomal homeostasis. FIG4‐related disorders present as a continuous spectrum from the juvenile lethality in Yunis‐Varon syndrome to an increased risk of amyotrophic lateral sclerosis (ALS) in adult life. FIG4‐related disorders comprise a novel group of disorders of lysosomal homeostasis and can be classified into severe ...
Pankaj Prasun, Matthew Rasberry
wiley   +1 more source

Imaging the Future: Diagnosing Treatable Neurometabolic Disorders in Children. [PDF]

Cureus
Eda IR, Ramachandran R, Joseph VM, Marreddy S, Mounika A.   +4 more
europepmc   +1 more source

S3 guideline diagnostics and therapy of alopecia areata – Part 1: Diagnostics and epidemiology

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Summary In the project funded by the Innovation Committee at the G‐BA, the S3 guideline for the diagnosis and treatment of AA was developed between 2023 and 2025. The interdisciplinary expert panel consisted of representatives from the German Dermatological Society, in particular from the Pediatric Dermatology Working Group, the Professional ...
Ulrike Blume‐Peytavi, Andria Constantinou, Tsenka Tomova‐Simitchieva, Adrian Tanew, Michael Sticherling, Hermann Girschick, Annika Vogt, Uwe Schwichtenberg, Uwe Gieler, André Märtens, Kerstin Zienert, Claudia Stenders, Ricardo Niklas Werner, Doris Wilborn   +13 more
wiley   +1 more source

Lipidomic Signatures in Pediatric Metabolic Disorders. [PDF]

Metabolites
Narvaez-Rivas M, Setchell KDR.
europepmc   +1 more source

Developmental stuttering with common and complex phenotypes

Developmental Medicine &Child Neurology, EarlyView.
Aim To describe the phenotypic spectrum associated with stuttering. Method Individuals with current or resolved developmental stuttering self‐referred. Surveys assessed stuttering characteristics (onset, negative impact, family history) and health (early development, other conditions). Speech and non‐verbal intelligence were assessed using conversation
Sarah E. Horton, Daisy A. Shepherd, Stephanie Siemers, Miya St John, Juliette Catherall, Ingrid E. Scheffer, Angela T. Morgan   +6 more
wiley   +1 more source