Results 141 to 150 of about 163,169 (213)

Pearson syndrome: expanding the clinical spectrum of a mitochondrial cytopathy-a case report. [PDF]

open access: yesJ Med Case Rep
Faisal A   +8 more
europepmc   +1 more source

Distinct Pattern of Atypical Megakaryocytes in VEXAS Syndrome. [PDF]

open access: yesInt J Lab Hematol
Sung AY   +4 more
europepmc   +1 more source

VEXAS Syndrome in Singapore: The First Nationwide Case Series. [PDF]

open access: yesInt J Rheum Dis
Lim JWW   +4 more
europepmc   +1 more source

Extra-Neurological Characterization of Seckel Syndrome-Model Mice Harboring <i>CEP152</i> Variants. [PDF]

open access: yesCells
Hamada N   +6 more
europepmc   +1 more source

Perioperative Anemia, Transfusion Practices, and Patient Blood Management: Lessons from the COVID-19 Pandemic. [PDF]

open access: yesHematol Rep
Ionescu A   +6 more
europepmc   +1 more source

Macrocytic anemia in Lesch–Nyhan disease and its variants

open access: yesGenetics in Medicine, 2019
Purpose: Lesch-Nyhan disease is an inherited metabolic disorder characterized by overproduction of uric acid and neurobehavioral abnormalities. The purpose of this study was to describe macrocytic erythrocytes as another common aspect of the phenotype ...
Gul Yalcin Çakmakli   +2 more
exaly   +3 more sources

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