Results 231 to 240 of about 3,625,402 (300)

Navigating Asparaginase Treatment for Patients With Acute Lymphoblastic Leukemia: US Consensus Panel Recommendations on the Role of Multidisciplinary Care

open access: yesAmerican Journal of Hematology, EarlyView.
ABSTRACT Asparaginase is a critical treatment component for patients with acute lymphoblastic leukemia/lymphoblastic lymphoma (ALL/LBL). However, the successful delivery of asparaginase‐based therapy remains challenging across care settings due to its complex administration, distinct toxicity profile, prolonged treatment duration, and the need for ...
Amir Ali   +8 more
wiley   +1 more source

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim   +12 more
wiley   +1 more source

Musculoskeletal Phenotypes of 19 Patients With X‐Linked HNRNPH2‐Related Neurodevelopmental Disorder: A Prospective Case Series

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Detailed clinical phenotypes have been previously reported for 33 individuals with X‐linked HNRNPH2‐related neurodevelopmental disorder. Of these, 75% self‐reported a musculoskeletal abnormality, including hip dysplasia, scoliosis, kyphosis, lordosis, pes planus, arthritis, and missing spinous processes.
Ambar Garcia   +6 more
wiley   +1 more source

Amniotic Band Syndrome: A 14-Year-Old Follow-Up Case Report. [PDF]

open access: yesCase Rep Orthop
Alsahil M   +4 more
europepmc   +1 more source

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