Results 181 to 190 of about 288,483 (243)

Mutation Analysis of X-linked Sideroblastic Anemia in a 12-Month-Old Boy by Massively Parallel Sequencing. [PDF]

Ann Lab Med, 2018
Yu HJ, Lee YJ, Shim JW, Kim DS, Shim JY, Park MS, Woo HY, Park H, Jung HL, Kwon MJ.   +9 more
europepmc   +1 more source

[Clinical features and gene mutation spectrum in children with sideroblastic anemia]. [PDF]

Zhongguo Dang Dai Er Ke Za Zhi, 2019
An WB, An WB, Liu C, Wan Y, Guo Y, Wang SC, Zhang YC, Zhu XF.   +7 more
europepmc   +1 more source

A Case of Primary Aquired Sideroblastic Anemia with Deficient δ-Aminolevulinic Acid Synthetase Activity in Bone Marrow Erythroblasts

, 1972
Masao Tanaka, Hiroshi Ohta
openalex   +2 more sources

IDIOPATHIC REFRACTORY SIDEROBLASTIC ANEMIA. CLINICAL AND LABORATORY INVESTIGATION OF 17 PATIENTS AND REVIEW OF THE LITERATURE

, 1971
J P Kushner, G. R. LEE, M. M. Wintrobe, G. E. Cartwright   +3 more
openalex   +1 more source

[A case report of X-linked sideroblastic anemia with novel ALAS2 gene mutation]. [PDF]

Zhonghua Xue Ye Xue Za Zhi, 2019
Bao SJ, Zhu HM, Tong Y, Hao D, Ling Y, Yuan W, Zhou Y, Sun ZQ.   +7 more
europepmc   +1 more source

A novel pathogenic variant in ALAS2 gene in young Indian male with X-linked sideroblastic anemia: a case report

Phani Krishna Machiraju, Satya Prasad Namala, Prabu Pandurangan, Mamta Soni, Ruba Palanisamy, Meena Sankar   +5 more
openalex   +1 more source

赤芽球特異的5ーアミノレプリン酸合成酵素の内在性機能調節領域の同定:X染色体連鎖鉄芽球性貧血の病因に関する新たな知見 [PDF]

, 2015
Senkottuvelan Kadirvel
core   +1 more source

Sideroblastic anemia in children: challenges in diagnosis and management in three cases

Samia Rekaya, Ilhem Ben Fraj, Rym Hamdi, Alain Taı̈eb, Amani Merdassi, Hamida Jouini, Hajer Zarrouk, Ikram Zaiter, Ridha Kouki, Mohamed Béjaoui, Fethi Mellouli, Monia Ben Khaled, Monia Ouederni   +12 more
openalex   +1 more source

Myopathy, lactic acidosis and sideroblastic anemia syndrome 1 (MLASA1) : clinical hallmarks in a large pedigree with a novel <i>PUS1</i> R144Q mutation, remarkable response to somatropin, and review of the literature

Lucia Parisi, Robert Escher
openalex   +1 more source

Identification of a novel truncated pathogenic variant in PUS1 gene in two siblings of consanguineous Tunisian family: intrafamilial phenotypic variability related to mtDNA copy number. [PDF]

Ann Hematol
Ammar M, Kmiha S, Maalej M, Felhi R, Kharrat M, Alila-Fersi O, Chouchen J, Maaloul I, Mkaouar-Rebai E, Kammoun T, Tlili A, Fakhfakh F.   +11 more
europepmc   +1 more source