Results 121 to 130 of about 1,051,766 (308)

Deteksi Mutasi Langka, Delesi 619 Bp, Pada Gen Beta-Globin Dari Etnis Melayu Mahasiswa Fakultas Kedokteran Universitas YARSI [PDF]

open access: yes, 2015
Beta-thalassemia merupakan gangguan hematologis autosomal yang secara genetis mengakibatkan berkurangnya sintesis beta-globin di hemoglobin. Beta-talasemia sebagian besar disebabkan oleh mutasi titik, insersi atau delesi dalam gen beta-globin yang ...
Kenconoviyati, K. (Kenconoviyati)   +4 more
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Continuum of care after newborn screening for sickle cell disease: Multinational evidence from a systematic review and meta‐analysis

open access: yes
British Journal of Haematology, EarlyView.
Tanveer Rehman   +9 more
wiley   +1 more source

Albuminuria Predicts a Rapid Decline in Kidney Function in 2 International, Longitudinal Cohorts of Adults With Sickle Cell Anemia

open access: yesAmerican Journal of Hematology, Volume 101, Issue 2, Page 304-310, February 2026.
ABSTRACT Chronic kidney disease (CKD) is common and a major contributor to increased morbidity and early mortality in people with sickle cell anemia (SCA). Urine albumin‐to‐creatinine ratio (uACR) is recommended to identify patients with SCA‐related CKD but its utility in predicting long‐term kidney dysfunction remains unclear in this patient ...
Pablo Bartolucci   +12 more
wiley   +1 more source

Associations between a health-promoting lifestyle and quality of life among adults with beta-thalassemia major

open access: yesEpidemiology and Health, 2016
OBJECTIVES A health-promoting lifestyle (HPL) is a factor that affects the quality of life (QoL) in patients with beta-thalassemia (β-thalassemia). Due to the lack of studies of this issue, this study aimed to determine the association between HPL and ...
A. Maheri   +5 more
semanticscholar   +1 more source

Intervention and Prevention of Hereditary Hemolytic Disorders in Two Ethnic Communities of Sundargarh District of Orissa, India: An Experience from KAP Studies [PDF]

open access: yes, 2010
Hereditary hemolytic disorders are important public health challenges in India. They cause a high degree of morbidity, mortality and fetal wastage in vulnerable communities.
Balgir, RS
core   +1 more source

Digenic Functional B12 and Folate Defect Mimicking Myelodysplasia

open access: yesClinical Case Reports, Volume 14, Issue 2, February 2026.
Proposed mechanistic model of mutation‐related outcomes. ABSTRACT A digenic defect involving CUBN and MTHFR produced functional B12/folate deficiency in a patient with pancytopenia and neurological signs, mimicking myelodysplasia. Genetic and metabolic screening revealed elevated methylmalonic acid/homocysteine, with rapid remission post‐parenteral B12.
Thomas Cluzeau   +3 more
wiley   +1 more source

Health Care Challenges of Hereditary Common Hematological Disorders in Odisha, India [PDF]

open access: yes, 2012
Medical Genetics over the past few decades have emerged as an important and powerful medical specialty with increasing appreciation of its role and function in the biomedical sciences.
Balgir, RS
core   +1 more source

Vildagliptin and Omarigliptin Differentially Bind to DPP‐4 Homodimers and Modulate Osteoclast‐Mediated Bone Resorption

open access: yesComprehensive Physiology, Volume 16, Issue 1, February 2026.
Vildagliptin and omarigliptin, dipeptidyl peptidase‐4 (DPP‐4) inhibitors, have differential effects on bone cells. Although vildagliptin improved the bone microstructure of high‐fat diet‐fed rats, it was unable to downregulate osteoclastogenesis or the expression of key osteoclast transcripts.
Ratchaneevan Aeimlapa   +11 more
wiley   +1 more source

GAMBARAN STATUS KARIES GIGI (INDEKS DMF-T) PADA PASIEN THALASEMIA BETA MAYOR DI RUMAH SAKIT UMUM DAERAH DR. ZAINOEL ABIDIN BANDA ACEH [PDF]

open access: yes, 2017
ABSTRAKNama: Reka Oktiana DewiFakultas: Kedokteran GigiProgram Studi: Pendidikan Dokter GigiJudul Skripsi: Gambaran Status Karies Gigi pada Pasien Thalasemia Beta Mayor di Rumah Sakit Umum Daerah dr.
Reka Oktiana Dewi
core  

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