Results 71 to 80 of about 11,181 (181)

Infantile systemic Hyalinosis in a 6-month-old male: identification of homozygous ANTXR2 gene mutation. [PDF]

Oxf Med Case Reports
Moshfegh F, Hosseinzade Z, Javanbakht M, Javid A, Mozaffari M.   +4 more
europepmc   +1 more source

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

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

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

Alkaline Phosphatase and Infantile GM1 Gangliosidosis: A Simple Biomarker for a Complex Disease? [PDF]

JIMD Rep
Fiori L, Turzi M, Tagi VM, Asnaghi L, Bonaventura E, Tonduti D, Spaccini L, Saielli LA, Montanari C, Cairello F, Mannarino S, Ferrario M, Del Longo A, Napolitano M, Righini A, Semeraro M, Venerando A, Miceli M, Verduci E, Zuccotti G.   +19 more
europepmc   +1 more source

Establishment and preliminary validation of a noninvasive diagnostic model for food allergy in infants. [PDF]

Transl Pediatr
Gao Y, Zhang H, Dai N, Li X, Dong W, Wang S, Wu H, Li Z.   +7 more
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

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

A novel homozygous splice-site variant in the FOCAD gene causing infantile liver cirrhosis and neutropenia: expanding disease phenotype and successful surgical treatment. [PDF]

Front Med (Lausanne)
Nuzhnaya E, Zaklyazminskaya E, Zabnenkova V, Akimova D, Tatarsky E, Dzik L, Surkov A, Zhurkova N, Filin A, Metelin A, Arakelyan A, Savina V, Babayan A, Skoblov M, Semenova N.   +14 more
europepmc   +1 more source

Cerebrotendinous Xanthomatosis: A Reversible Rarity if Caught on Time. [PDF]

Indian Dermatol Online J
Suresh P, Dev PP, Khunger N, Sharma S.
europepmc   +1 more source