Results 91 to 100 of about 158,381 (194)

Thiamine– Responsive Megaloblastic Anemia Syndrome

Majallah-i Dānishgāh-i ’Ulūm-i Pizishkī-i Shahīd Ṣadūqī Yazd, 2009
Thiamine Responsive megaloblastic anemia in DIDMOA (Wolfram) syndrome has an autosomal- recessive mode of inheritance . Megaloblastic anemia and sideroblastic anemia is accompanied by diabetes insipidus (DI), diabetes mellitus (DM) ,optic atrophy (OA ...
F Motavaselian, F Nourani, Kh Dehghani, M Kheirandish, AH Jafari, A Hashemi   +5 more
doaj  

A YARS2 mutation is a novel cause of mitochondrial myopathy lactic acidosis and sideroblastic anemia (MLASA) syndrome

, 2011
A YARS2 mutation is a novel cause of mitochondrial myopathy lactic acidosis and sideroblastic anemia (MLASA ...
Peter Hickey (3484085), Richard Giegé (28490), Alison Compton (13492513), Mike Ryan (19213375), David Thorburn (13492525), Matthew McKenzie (13084017), John Christodoulou⁎ (19213378), Joëlle Rudinger-Thirion (807041), Lisa Riley (11328381), Melanie Bahlo (54258), Sandra Cooper (3486899)   +10 more
core  

X-linked sideroblastic anemia and ataxia: a new family with identification of a fourth ABCB7 gene mutation

, 2012
: X-linked sideroblastic anemia and ataxia (XLSA-A) is a rare cause of early onset ataxia, which may be overlooked due to the usually mild asymptomatic anemia. The genetic defect has been identified as a mutation in the ABCB7 gene at Xq12-q13.
Vermeersch, Pieter, Marc D’Hooghe, D' Hooghe, Marc, Mortier, Geert, Pieter Vermeersch, Geert Mortier, Dominik Selleslag, D'Hooghe, Marc, Bekri, Soumeya, Rudy Van Coster, Van Coster, Rudy, Selleslag, Dominik, Soumeya Bekri, Johan Billiet, Billiet, Johan   +14 more
core   +1 more source

Diagnóstico diferencial da deficiência de ferro Differential diagnosis of iron deficiency

Revista Brasileira de Hematologia e Hemoterapia, 2010
A deficiência de ferro é considerada a patologia hematológica mais prevalente no homem. Assim, é fundamental a adequada identificação de suas causas, bem como a diferenciação com outras patologias distintas para adequada abordagem da deficiência de ferro.
Perla Vicari, Maria Stella Figueiredo
doaj  

Sideroblastic anemia: An underdiagnosed rare disease

Pediatric Hematology Oncology Journal, 2022
Swetha Palla, Pankaj Sharma, Prateek Bhatia, Deepak Bansal, Reena Das, Amita Trehan   +5 more
doaj   +1 more source

SIDEROBLASTIC ANAEMIA–A HITHERTO UNRCCGNIZED CAUSE OF UNEXPLAINED ANAEMIA

Pakistan Armed Forces Medical Journal, 2018
Objective: To assess the clinicopathological heterogeneity of sideroblastic anemia disorders characterized by the presence of ring sideroblasts in the bone marrow. Study Design: Descriptive study. Place and Duration of Study: Study was conducted
Kamran Nazir Ahmad, Shawana Kamran, Tariq Sarfraz, Khurshid Ali Bangash, Aniqa Bano, Farah Bano   +5 more
doaj  

[Sideroblastic anemia].

[Rinsho ketsueki] The Japanese journal of clinical hematology, 1973
M, Tsukada, M, Shimizu
openaire   +4 more sources

Sideroblastic anemia [PDF]

, 2020
openaire   +2 more sources

X-linked sideroblastic anemia sensitive to pyridoxine : the first case study

, 2017
Οι σιδηροβλαστικές αναιμίες αποτελούν μία ετερογενή ομάδα κληρονομικών και επίκτητων διαταραχών της βιοσύνθεσης της αίμης. Η πιο συχνή από τις κληρονομικές μορφές σιδηροβλαστικής αναιμίας είναι η Χ-συνδεδεμένη σιδηροβλαστική αναιμία.
Πιτροπάκη Παυλάντου, Δήμητρα Μαρκέλλα
core  

Early-Onset TRNT1-Related SIFD Syndrome with an Additional Monoallelic C7 Variant: A Pediatric Case Report. [PDF]

Diagnostics (Basel)
Juganaru I, Cojocaru A, Grigorita A, Mang N, Paun A, Basaca DG, Grigorita LO, Cristun LI, Marginean O.   +8 more
europepmc   +1 more source