Results 141 to 150 of about 19,319 (231)

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

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

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

Urban laboring poor against Infant Mortality at Osaka city of the early 20th century : Who saved babies? [PDF]

, 2013
Hanashima, Makoto, Higami, Emiko, Tomobe, Kenichi   +2 more
core  

Infantile extreme hypertriglyceridemia diagnosed as glycogen storage disease type Ia: A case report. [PDF]

Medicine (Baltimore)
Yuan C, Liu Y, Lyu J, Sun X, Wu J.
europepmc   +1 more source

Monogenic inflammatory bowel disease: An unfolding enigma. [PDF]

World J Clin Pediatr
Ghosh U, Samanta A.
europepmc   +1 more source

Congenital Infantile Fibrosarcoma of the Ileum in a 4-Day-Old Female Neonate Mimicking Intestinal Atresia: A Rare Case Report With Histopathological Insights. [PDF]

Clin Case Rep
Zaresharifi N, Jafari A, Khalili A, Pirooz A, Jafari M.   +4 more
europepmc   +1 more source

Systemic angiogenic protein changes following propranolol therapy in infantile hemangioma: a multi-target perspective. [PDF]

Front Pharmacol
Liang L, Zhang Y, Ma Y, Liu J, Du W, Ma Q.   +5 more
europepmc   +1 more source

Genetic background of infantile hypophosphatemia: a narrative review. [PDF]

Transl Pediatr
Zeng X, Hu L.
europepmc   +1 more source

Clinical Insights into Risk Factors for Infantile Hemangioma and Propranolol Treatment Outcomes. [PDF]

Diagnostics (Basel)
Roșca I, Miulescu RG, Roman AM, Peta OA, Turenschi A, Miu A, Sosoi A, Constantin AT, Năstase L, Miu S, Dinulescu A, Poenaru E, Șandru F.   +12 more
europepmc   +1 more source