Results 131 to 140 of about 145,176 (218)

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

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

Clinical Phenotypes and Genetic Findings in Very-Early-Onset Inflammatory Bowel Disease: A Vietnamese Pediatric Cohort Study. [PDF]

Children (Basel)
Nguyen MC, Nguyen TVH, Nguyen L, Dang TH, Tran T, Nguyen TVA, Hoang NT, Nguyen NQL, Do TMP, Nguyen VT, Vu HY, Nguyen TNH, Nguyen TTT, Le TCV, Bui TKN, Le TTH, Tran MD.   +16 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

Intestinal failure in kaposiform hemangioendothelioma successfully resolved with medical therapy and nearly fat-free oral feeding: A novel case report. [PDF]

Intest Fail
Mosher TL, Contijoch EJ, Bui J, Teng J, Jeng MR, Namjoshi SS.   +5 more
europepmc   +1 more source

Efficacy of personalized traditional Chinese medicine massage combined with tuina in the treatment of pediatric congenital heart disease and malnutrition intolerance. [PDF]

Pak J Med Sci
Wang Y, Yao J, Xiao Y, Ma Q, Tao S.
europepmc   +1 more source

Challenges in the Diagnosis of Infantile Enterocolitis and Rare Auto-Inflammatory Syndromes: A Case Report and Literature Review. [PDF]

Clin Case Rep
Khalesi M, Vahedi S, Jafari S, Malek A, Kianifar HR, Vahedi M.   +5 more
europepmc   +1 more source

2025 Consensus Clinical Management Guidelines for Niemann-Pick Disease Type C. [PDF]

J Inherit Metab Dis
Hiwot T, Porter FD, Bremova-Ertl T, Ramaswami U, Hastings C, Héron B, Hopkin J, Melville J, Amartino H, Del Toro M, Deodato F, Ezgü F, Gissen P, Gibson JB, Ficicioglu C, Giugliani R, Staretz-Chacham O, Platt F, Guffon N, Julich K, Kresojević N, Lehman A, Nadjar Y, Schneider SA, Jones S, Mengel E, Tchan M, Walterfang M, Goker-Alpan O, Dawson C, Cowie S, Mathieson T, Berry-Kravis E, Patterson MC.   +33 more
europepmc   +1 more source

Multimodal imaging of infantile scimitar syndrome with Eisenmenger physiology: A case report of complex intracardiac and extracardiac shunts. [PDF]

Radiol Case Rep
Gebre B, Gereziher Y, Alcober C, Baltazar G, Markau V.   +4 more
europepmc   +1 more source