Results 91 to 100 of about 145,000 (173)

Identification of Novel <i>IL-10RA</i> Variant in Infantile-Onset Inflammatory Bowel Disease: A Case Series With Preliminary Genotype-Phenotype Correlation From Two Chinese Families. [PDF]

Case Rep Med
Guan C, Ma Y, Zhang X, Zhang R, Jiang Y, Liu S.   +5 more
europepmc   +1 more source

Novel homozygous variant in ACSL5 gene causing Congenital Diarrhea and Enteropathy (CODE) with sustained therapeutic success: a case report. [PDF]

BMC Pediatr
Vafadar M, Saeedi V, Zarei E, Kamalzadeh L.   +3 more
europepmc   +1 more source

Effectiveness, tolerability, and retention of the ketogenic diet for infantile epileptic spasms syndrome: a single-center cohort study. [PDF]

Front Neurol
Zhao F, Hu W, Zhang W, Lu Y, Li J, Zhang H.   +5 more
europepmc   +1 more source

Novel compound heterozygous MVK variants cause early-onset mevalonic aciduria in a Chinese infant. [PDF]

Front Pediatr
Li N, Li W, Zhang H, Wang X.
europepmc   +1 more source

Real-World Study of Management and Outcomes of Patients with Lysosomal Acid Lipase Deficiency (LAL-D) in France. [PDF]

Adv Ther
Lacaille F, Marguet S, Rascon Velasco V, Hasanova R, Amri E, Chevrou-Severac H, Abel F, de Pouvourville G, Ratziu V, Feillet F.   +9 more
europepmc   +1 more source

Genotype-phenotype correlations in pediatric CAPS with predominantly low-penetrance NLRP3 variants among Turkish patients in Germany and Turkey: beyond borders. [PDF]

Pediatr Rheumatol Online J
Bayindir Y, Satirer Ö, Cam V, Turkmen S, Sozeri B, Kuemmerle-Deschner JB, Ozen S.   +6 more
europepmc   +1 more source

Overview of pediatric and adult lysosomal acid lipase deficiency: expert recommendations from a Gulf cooperation council working group. [PDF]

Orphanet J Rare Dis
AlSayed M, Al Rasadi K, AlDhaheri NS, Al-Hussaini A, Awaji A, Al Tenaiji A, Bzeizi KI, Miqdady M, Al Hashmi N, Alfadhel M.   +9 more
europepmc   +1 more source

Infection-Triggered Disease Flare With Extraintestinal Manifestations in Trichohepatoenteric Syndrome: A Case Report. [PDF]

Case Rep Med
Taha HM, AbuBaha M, Salameh H, Hashem W, Abualhommos AAA, Marouf O, Khalili H.   +6 more
europepmc   +1 more source

Autoinflammation with infantile enterocolitis induced by a heterozygous variant (c.1357C > T) in the NLRC4 gene: a case report. [PDF]

Front Pediatr
Wang X, Xiao Y, Ge T, Zhang T, Li X.
europepmc   +1 more source

Studies on infantile diarrhea.

Paediatrica Indonesiana, 1967
H K, Chow, C Y, Li, Y P, Tsao, S C, Shen, T C, Lu   +4 more
openaire   +1 more source