Results 141 to 150 of about 13,600 (265)

Deformity Correction and Limb Lengthening in Maffucci Syndrome - A Case Report. [PDF]

open access: yesJ Orthop Case Rep
Yadav AK, Panchal S, Gawhale S, Wadia F.
europepmc   +1 more source

Management of Iron Overload in Infants and Toddlers With Diamond–Blackfan Anemia Syndrome: A French–Italian Study

open access: yesAmerican Journal of Hematology, EarlyView.
ABSTRACT Diamond–Blackfan Anemia Syndrome (DBAS) is a rare congenital anemia often requiring chronic red blood cell transfusions from infancy. Without appropriate chelation, iron overload develops early and may be severe; however, no data are available on chelation in patients under 3 years of age.
Francesca Torchio   +19 more
wiley   +1 more source

Dordaviprone Maintenance After Allogeneic HCT for High‐Risk Acute Myeloid Leukemia and Myelodysplastic Neoplasm

open access: yesAmerican Journal of Hematology, EarlyView.
ABSTRACT Dordaviprone is a first‐in‐class small‐molecule imipridone. In preclinical studies, it is active against leukemia cells harboring a TP53 mutation or complex karyotype and leukemia stem cells while sparing normal bone marrow cells. This study aimed to determine the safety of dordaviprone maintenance after allogeneic hematopoietic cell ...
Vijaya Raj Bhatt   +8 more
wiley   +1 more source

How do lesions affect limb lengthening in children with Ollier's disease? [PDF]

open access: yesBMC Musculoskelet Disord
Wu C, Huang P, Mo Y, Wang D, Ning B.
europepmc   +1 more source

The 9th International RASopathies Symposium

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel   +41 more
wiley   +1 more source

Aesthetic lower limb lengthening techniques: a systematic review of efficacy, complications, and patient satisfaction. [PDF]

open access: yesJ Orthop Surg Res
Giorgino R   +6 more
europepmc   +1 more source

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi   +6 more
wiley   +1 more source

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