Carbonic Anhydrase II Deficiency in 12 Families with Osteopetrosis with Renal Tubular Acidosis & Cerebral Calcification
NEJM 313:139-181, Sly,W.S.,et al, 1985
Neuroimaging Features of Biotinidase Deficiency
AJNR 44:328-333, Biswas,A.,et al, 2023
Spinal Cord Compression by Extramedullary Hemopoietic Tissue in Pyruvate-Kinase-Deficiency-Caused Hemolytic Anemia
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