Results 131 to 140 of about 31,298 (246)

Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva, Yann Nadjar, Manuel Schiff, Christine Vianey‐Saban, Alain Fouilhoux, Jean‐François Benoist   +5 more
wiley   +1 more source

Clinical Characteristics of 19 Patients With Acid Sphingomyelinase Deficiency: A Case Series From Multiple Centers in Argentina

JIMD Reports, Volume 67, Issue 4, July 2026.
ABSTRACT Acid sphingomyelinase deficiency (ASMD), historically known as Niemann‐Pick disease, is a rare and potentially fatal lysosomal storage disease caused by pathogenic variants in the sphingomyelin phosphodiesterase 1 (SMPD1) gene, which encodes acid sphingomyelinase (ASM).
Maria Cristina Robin, Consuelo Durand, Guillermo Guelbert, Norberto Guelbert, Mariana Leguizamon, Mariana Nuñez Miñana, Maria Alejandra Cédola, Maria Gabriela de Lourdes Pacheco, Evangelina Gonzalez, Marisa Spallina, Sandra Quijano   +10 more
wiley   +1 more source

A Case of Hemophagocytic Lymphohistiocytosis During Immune Checkpoint Inhibitor Treatment for Metastatic Renal Cell Carcinoma, Complicated by Pancytopenia Attributed to Cytomegalovirus Infection

IJU Case Reports
Introduction Hemophagocytic lymphohistiocytosis (HLH) is characterized by macrophage and cytotoxic lymphocyte hyperactivation, fever, pancytopenia, liver dysfunction, and abnormal coagulation. However, no specific treatments have been established for HLH
Tomoko Honda, Hirohito Naito, Yu Osaki, Yoichiro Tohi, Yuki Matsuoka, Takuma Kato, Homare Okazoe, Rikiya Taoka, Nobufumi Ueda, Mikio Sugimoto   +9 more
doaj   +1 more source

From a novel pathogenic SAMD9L variant to cohort‐wide insights: Whole‐genome sequencing highlights somatic genetic rescue and phenotypic heterogeneity

British Journal of Haematology, Volume 209, Issue 1, Page 75-83, July 2026.
Summary Germline gain‐of‐function variants in sterile alpha motif domain–containing 9‐like (SAMD9L), located on chromosome 7q, cause a multisystem disorder characterized by bone marrow failure, immunodeficiency and variable neurological involvement. Disease evolution is frequently shaped by somatic genetic rescue (SGR), most commonly through monosomy 7,
Hadjer Dellal, Roman Klifa, Lise Larcher, Marie Passet, Tristan Celse, Laetitia Gouas, Maud Tusseau, AURAGEN Consortium, Alexis Praga, Virginie Bernard, Mathieu Fusaro   +10 more
wiley   +1 more source

ETIOLOGICAL PROFILE OF PANCYTOPENIA

, 2023
Objective: The objective of the study was to describe the etiological profile of pancytopenia. Methods: This was an observational study done in 85 patients who presented with pancytopenia to the Department of General Medicine, Government Medical College,
Kumar N, Anoop, Surendran, Athira, NN, Padmakumar   +2 more
core  

A case of hypopituitarism with pancytopenia cured by corticosteroid and thyroid hormone replacement therapy

Endocrinology, Diabetes & Metabolism Case Reports
Pancytopenia associated with hypopituitarism has been reported in the literature as a rare occurrence limited to isolated case reports, predominantly associated with Sheehan syndrome.
Violeta Mladenovic, Radica Zivkovic Zaric, Snezana Sretenovic, Dragana Bubanja, Zeljko Ivosevic, Nebojsa Igrutinovic, Jelena Nesic, Predrag Djurdjevic   +7 more
doaj   +1 more source

Long‐Term Clinical and Molecular Dynamics in Hypoplastic Myelodysplastic Neoplasia Treated With Immunosuppressive Therapy

European Journal of Haematology, Volume 117, Issue 1, Page 274-278, July 2026.
ABSTRACT Myelodysplastic neoplasia (MDS) comprises heterogeneous clonal hematologic disorders characterized by peripheral cytopenia, bone marrow dysplasia, and a risk of leukemic transformation. A hypoplastic variant (MDS‐h) shares features with aplastic anemia and responds to immunosuppressive therapy (IST).
Hannes Treiber, Christina Ganster, Katayoon Shirneshan, Katharina Rittscher, Elzbieta Brzuszkiewicz, Justin Hasenkamp, Wolfram Jung, Gerald Wulf, Detlef Haase   +8 more
wiley   +1 more source

Myxedema Coma-Associated Pancytopenia: A Case Report

Pancytopenia is defined as a reduction in red blood cells, white blood cells, and platelets, and can pose as a diagnostic challenge due to the multitude of causes. Myxedema coma is the manifestation of severe untreated hypothyroidism.
Yoav Geva, David A. Stein, Orit Twito, Nadav Sarid   +3 more
core   +1 more source

A STUDY OF PANCYTOPENIA IN ADULT PATIENTS MORE THAN 12 YEARS OF AGE IN NORTH WEST REGION OF SAURASHTRA

National Journal of Medical Research, 2013
Introduction: Pancytopenia is a manifestation of many serious & life threatening diseases with an extensive differential diagnosis. Major causes of pancytopenia in developing countries are megaloblastic anemia, parasitic infection, hypersplenism and ...
Bhaskar B Thakkar, Ukti N Bhavsar, N J Trivedi, A S Agnihotri   +3 more
doaj  

Etiology and Clinicopathological Profile of Patients with Pancytopenia [PDF]

, 2006
INTRODUCTION : Pancytopenia refers to reduction in all three formed elements of blooderythrocytes, leucocytes and platelets. It is not a disease entity, but rather a triad of findings[anemia, leucopenia, thrombocytopenia] that may result from number of
Rajiv, A
core