Results 181 to 190 of about 60,964 (282)

Therapeutic plasmapheresis in a young infant with severe hypertriglyceridemia: a case report. [PDF]

Clin Pediatr Endocrinol
Choudhary A, James A, Dahake U, Das S, Sab PC, Jain S, Bang A, Girish M.   +7 more
europepmc   +1 more source

Immune Hyperactivation in Epstein-Barr Virus (EBV)-Driven T-cell Lymphoproliferation: A Pediatric Case of Hemophagocytic Syndrome. [PDF]

Cureus
Fakhri NEH, Ryouni K, Mounia EA, Benajiba N.   +3 more
europepmc   +1 more source

Is the degree of fetal hepatosplenomegaly with transient abnormal myelopoiesis closely related to the postnatal severity of hematological abnormalities in Down syndrome?

Ultrasound in Obstetrics and Gynecology, 2004
M. Ogawa, N. Hosoya, A. Sato, T. Tanaka
semanticscholar   +1 more source

Pathogenic Variants and Olipudase Alfa Treatment of Patients With Acid Sphingomyelinase Deficiency in Taiwan. [PDF]

Mol Genet Genomic Med
Lin HH, Chen HA, Lin SJ, Hsu RH, Lee NC, Hwu WL, Ni YH, Chou YY, Chiu PC, Peng SS, Chien YH.   +10 more
europepmc   +1 more source

Delayed Diagnosis of Primary Hyperoxaluria and Systemic Oxalosis in a Hemodialysis Patient: A Case Report and Literature Review. [PDF]

Cureus
Benali H, El Mansouri M, Ait Elkihal I, Hamouche N, Chettati M, Fadili W, Laouad I.   +6 more
europepmc   +1 more source

A Cohort Study of 38 Classic Wiskott-Aldrich Syndrome Cases with Six Novel Mutations. [PDF]

J Clin Immunol
Razaghian A, Badalzadeh M, Hamidieh AA, Shokouhi Shoormasti R, Behniafard N, Houshmand M, Moradi L, Alavi S, Behfar M, Movahedi M, Gharagozlou M, Rostami T, Moussavi F, Fallahpour M, Shariat M, Parvaneh N, Shafiei A, Ahanchian H, Babaei D, Bemanian MH, Radmehr R, Khademi R, Shamlou S, Fazlollahi MR, Pourpak Z.   +24 more
europepmc   +1 more source

Nonmetastatic nephrogenic hepatosplenomegaly and epilepsy [PDF]

Postgraduate Medical Journal, 1965
openaire   +2 more sources

New roles for the major human 3\u27–5\u27 exonuclease TREX1 in human disease [PDF]

, 2008
Atkinson, John P, Kavanagh, David, Kothari, Parul H, Liszewski, M Kathryn, Richards, Anna, Shaikh, Aisha, Spitzer, Dirk   +6 more
core   +1 more source

Intravascular Large B-cell Lymphoma Presenting as Hemophagocytic Lymphohistiocytosis and Pyrexia of Unknown Origin: A Diagnostic Dilemma. [PDF]

Cureus
Aloodigothi MH, Anilkumar A, Kunhayamed A.   +2 more
europepmc   +1 more source

Unveiling the unexpected: refractory rickets as an uncommon presentation of tyrosinemia type I. [PDF]

BMC Pediatr
Ramanna MB, Kamate M, Koppad B.
europepmc   +1 more source