Results 241 to 250 of about 24,798 (312)

Clinical characteristics and etiology-specific outcome in pediatric hypertrophic cardiomyopathy. [PDF]

Clin Res Cardiol
Minette F, Klass M, Meyer N, Merzweiler A, Burkart S, Hempel M, Frey N, Völkers M, Gorenflo M, Kovacevic A, Sandmann C.   +10 more
europepmc   +1 more source

Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation

The Laryngoscope, Volume 136, Issue 7, Page 3240-3245, July 2026.
We report the first documented case of airway involvement in Conradi–Hünermann–Happle syndrome (CDPX2), an X‐linked dominant form of chondrodysplasia punctata caused by pathogenic variants in EBP. A 2‐month‐old female with genetically confirmed CDPX2 developed severe subglottic stenosis and persistent respiratory distress requiring CPAP; cross ...
Enrique G. Villarreal, Jackie Chiang, Evan J. Propst, Nikolaus E. Wolter   +3 more
wiley   +1 more source

Excluded GM-specific IgG Subclass Genes in Health and Disease - Inborn Errors of Immunity. [PDF]

J Clin Immunol
Oxelius VA.
europepmc   +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

Inborn errors of metabolism in man

International Symposium on Inborn Errors of Metabolism in Man 1977 Tēl-Āvîv, Sperling, Oded   +1 more
core  

Inherited disorders of cobalamin metabolism in childhood: biochemical and clinical perspectives. [PDF]

Front Nutr
Saini AG, Gunasekaran PK, Prasad AN.
europepmc   +1 more source

Clinical characteristics and long-term prognosis of talaromycosis in children with novel and reported inborn errors of immunity. [PDF]

Front Immunol
Lu Q, Li X, Jiang Z, Li T, Li B, Huang L, Huang Q, Hu D, Lv C, Liu G, Zhong J, Lin J, Liao L, Qin Q, Qin S, Shao H, Wang Z, Li X, Jiang L, Zhang X, Wei L, Liang J, Zheng D, Wang S, Wu W, Pan K, Zheng Y, Li Y, Tang Q, Jiang M, Liao W, Cao C.   +31 more
europepmc   +1 more source

Gastroenterological disorders in inborn errors of immunity. Part 1. Epidemiology, classification, symptoms, diagnosis, and treatment. [PDF]

Prz Gastroenterol
Napiórkowska-Baran K, Treichel P, Koperska K, Kudrej O, Mućka N, Rajewska A, Wawrzeńczyk A, Bartuzi Z.   +7 more
europepmc   +1 more source