Novel homozygous variant in ACSL5 gene causing Congenital Diarrhea and Enteropathy (CODE) with sustained therapeutic success: a case report. [PDF]
Vafadar M +3 more
europepmc +1 more source
NON-MIGRAINE RELATED PAIN BEHAVIOURS IN A TRANSGENIC "MIGRAINE MOUSE" WITH CIRCADIAN DISRUPTION [PDF]
Goadsby, Peter J +6 more
core +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]
Nuzhnaya E +14 more
europepmc +1 more source
[Etiology of acute infantile diarrheas].
M L, SALDUN DE RODRIGUEZ, J M, PORTILLO
openaire +3 more sources
Cerebrotendinous Xanthomatosis: A Reversible Rarity if Caught on Time. [PDF]
Suresh P, Dev PP, Khunger N, Sharma S.
europepmc +1 more source
Infantile extreme hypertriglyceridemia diagnosed as glycogen storage disease type Ia: A case report. [PDF]
Yuan C, Liu Y, Lyu J, Sun X, Wu J.
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]
Zaresharifi N +4 more
europepmc +1 more source
Genetic background of infantile hypophosphatemia: a narrative review. [PDF]
Zeng X, Hu L.
europepmc +1 more source
Monogenic inflammatory bowel disease: An unfolding enigma. [PDF]
Ghosh U, Samanta A.
europepmc +1 more source

