Results 271 to 280 of about 788,687 (360)

Mycosis Fungoides, Sézary Syndrome, and Cutaneous B‐Cell Lymphomas: 2025 Update on Diagnosis, Risk‐Stratification, and Management

open access: yesAmerican Journal of Hematology, EarlyView.
ABSTRACT Disease Overview Primary cutaneous lymphomas are a rare and heterogeneous group of extranodal lymphomas that require the integration of clinical and histopathologic data for classification and treatment. Diagnosis Diagnosis and disease classification is based on histopathologic review and immunohistochemical staining of an appropriate skin ...
Alexandra C. Hristov   +2 more
wiley   +1 more source

VITAMIN A DEFICIENCY

open access: hybrid, 1940
L. B. Pett, G. A. LePage
openalex   +1 more source

Addressing Anemia in High‐Altitude Populations: Global Impact, Prevalence, Challenges, and Potential Solutions

open access: yesAmerican Journal of Hematology, EarlyView.
Key challenges in diagnosing anemia in high‐altitude populations include variability in hemoglobin (Hb) concentration, associated pathological conditions, altitude‐induced plasma volume changes, and environmental factors such as contamination and nutrition.
Ayoub Boulares   +11 more
wiley   +1 more source

Prenatal Brain Abnormalities in Sodium‐Dependent Multivitamin Transporter Deficiency

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT In treatable neurometabolic disorders, early diagnosis and prompt initiation of treatment are key to improved survival and outcomes. Biallelic variants in SLC5A6 cause sodium‐dependent multivitamin transporter deficiency (OMIM # 618973), which is treatable with high‐dose pantothenic acid, biotin, and alpha lipoic acid.
Eri Ogawa   +2 more
wiley   +1 more source

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone   +13 more
wiley   +1 more source

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