Results 71 to 80 of about 4,354 (166)

Importance of Morphology in the Era of Molecular Biology: Lesson Learnt from a Case of Chediak-Higashi Syndrome. [PDF]

Indian J Hematol Blood Transfus, 2021
Singh A, Jindal AK, Indla R, Sharma P, Varma N, Rawat A.   +5 more
europepmc   +1 more source

Primary haemophagocytic lymphohistiocytosis (Chédiak-Higashi Syndrome) triggered by acute SARS-CoV-2 infection in a six-week-old infant. [PDF]

Br J Haematol, 2021
Lange M, Linden T, Müller HL, Flasskuehler MA, Koester H, Lehmberg K, Ledig S, Ehl S, Heep A, Beske F.   +9 more
europepmc   +1 more source

Albinism : a case report [PDF]

, 1973
Albinism means the absence of cutaneous pigments. This is a rare hereditary disorder of the skin found in all races. The basic defect is an inherent deficiency of the enzyme tyrosinase usually found in melanocytes. Albinism can be total or partial.
Psaila, Angelo J.
core  

Case Report: Partial Uniparental Disomy Unmasks a Novel Recessive Mutation in the LYST Gene in a Patient With a Severe Phenotype of Chédiak-Higashi Syndrome. [PDF]

Front Immunol, 2021
Boluda-Navarro M, Ibáñez M, Liquori A, Franco-Jarava C, Martínez-Gallo M, Rodríguez-Vega H, Teresa J, Carreras C, Such E, Zúñiga Á, Colobran R, Cervera JV.   +11 more
europepmc   +1 more source

Neonatal Hemophagocytic Lymphohistiocytosis – Case Report [PDF]

, 2010
Hemophagocytic lymphohystiocytosis (HLH) represents a severe hyperinflammatory condition with the cardinal symptoms prolonged fever, hepatosplenomegaly, and cytopenias. The most prominent histopathological feature of HLH is an accumulation of activated T
Barbara Kvenić, Ika Kardum-Skelin, Irena Seili-Bekafigo, Jelena Roganović, Nives Jonjić   +4 more
core   +1 more source

Histochemical and cellular changes accompanying the appearance of lung fibrosis in an experimental mouse model for Hermansky Pudlak syndrome [PDF]

, 2010
Lingyan Wang, Timothy Lyerla
core   +1 more source

Rehabilitación visual en albinismo. Revisión bibliográfica [PDF]

, 2019
El albinismo comprende un grupo de enfermedades hereditarias que se caracterizan por falta o ausencia en la biosíntesis de la melanina. Existen dos grandes tipos: albinismo oculocutáneo con afectación en cabello, piel y ojos, y albinismo ocular, con ...
Novillo Díaz, José Antonio
core   +1 more source

Chediak-Higashi Syndrome With Epstein-Barr Virus Triggered Hemophagocytic Lymphohistiocytosis: A Case Report. [PDF]

Cureus, 2020
Gopaal N, Sharma JN, Agrawal V, Lora SS, Jadoun LS.   +4 more
europepmc   +1 more source

Chediak-Higashi syndrome: a review of the past, present, and future. [PDF]

Drug Discov Today Dis Models, 2020
Sharma P, Nicoli ER, Serra-Vinardell J, Morimoto M, Toro C, Malicdan MCV, Introne WJ.   +6 more
europepmc   +1 more source

Identification of a compound heterozygote in LYST gene: a case report on Chediak-Higashi syndrome. [PDF]

BMC Med Genet, 2020
Song Y, Dong Z, Luo S, Yang J, Lu Y, Gao B, Fan T.   +6 more
europepmc   +1 more source