Results 221 to 230 of about 13,881 (340)

Lineage specific metabolic activity in haematopoiesis

open access: bronze, 2013
Claudia Billing   +6 more
openalex   +1 more source

Natural History and Diagnostic Findings in an Adult Man Diagnosed With Attenuated Krabbe Disease

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Krabbe disease (KD), or globoid cell leukodystrophy, is a rare autosomal recessive lysosomal storage disorder caused by a deficiency in galactocerebrosidase (GALC), leading to psychosine (galactosylsphingosine) accumulation and myelin damage.
Eamon P. McCarron   +8 more
wiley   +1 more source

Higher risk profile among patients with TET2-mutated giant cell arteritis: a cluster analysis. [PDF]

open access: yesRMD Open
Guedon AF   +14 more
europepmc   +1 more source

Hereditary Multiple Osteochondromas and Acute Lymphoblastic Leukemia: A Possible Role for EXT1 and EXT2 in Hematopoietic Malignancies

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hereditary multiple osteochondromas (HMO) is an autosomal dominant disorder caused by heterozygous deleterious variants in the EXT1 or EXT2 genes. While the clinical core phenotype is well established and mainly consists of bone deformities, limb length discrepancies, multiple benign bone neoplasms, and increased risk of chondrosarcoma, the ...
Francesco Comisi   +7 more
wiley   +1 more source

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