Literature DB >> 7367115

The pancytopenia of isovaleric acidemia.

J F Kelleher, M Yudkoff, R Hutchinson, C S August, R M Cohn.   

Abstract

Severe pancytopenia developed in two infants with isovaleric acidemia. Previous reports indicate these hematologic abnormalities are a leading cause of death in affected infants. Our findings suggest that the pancytopenia may be due to arrested maturation of hematopoietic precursors. Prompt transfusion of appropriate blood components prevented complications due to the hematologic abnormalities.

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Year:  1980        PMID： 7367115

Source DB:  PubMed          Journal:  Pediatrics        ISSN： 0031-4005            Impact factor:   7.124


  10 in total

1.  Severe CNS bleeding followed by a good clinical outcome in the acute neonatal form of isovaleric acidaemia.

Authors:  T Orban; C Mpofu; D Blackensee
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

2.  Haematological findings in children with inborn errors of metabolism.

Authors:  Betul Tavil; Hatice Serapl Kalkanoglu Sivri; Turgay Coskun; Aytemiz Gurgey; Emel Ozyurek; Ali Dursun; Aysegul Tokatli; Cigdem Altay; Fatma Gumruk
Journal:  J Inherit Metab Dis       Date:  2006-08-12       Impact factor: 4.982

Review 3.  Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity.

Authors:  Jerry Vockley; Regina Ensenauer
Journal:  Am J Med Genet C Semin Med Genet       Date:  2006-05-15       Impact factor: 3.908

4.  An unusual case of oral surgical management in a patient with isovaleric acidemia and schizophrenia: A case report.

Authors:  Sho Miyamoto; Edward Hose Ntege; Yasutsugu Chinen; Takahiro Goto; Jumpei Shirakawa; Shimpei Goto; Toshihiro Kawano; Yusuke Shimizu; Koichi Nakanishi; Hiroyuki Nakamura
Journal:  Biomed Rep       Date:  2022-06-07

5.  Immune functions in methylmalonicaciduria.

Authors:  J A Church; R Koch; K N Shaw; C A Nye; G N Donnell
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

6.  Transcobalamin (TC) deficiency--potential cause of bone marrow failure in childhood.

Authors:  C Prasad; D S Rosenblatt; K Corley; A E L Cairney; C A Rupar
Journal:  J Inherit Metab Dis       Date:  2008-10-29       Impact factor: 4.982

7.  Complementation studies of isovaleric acidemia and glutaric aciduria type II using cultured skin fibroblasts.

Authors:  B Dubiel; C Dabrowski; R Wetts; K Tanaka
Journal:  J Clin Invest       Date:  1983-11       Impact factor: 14.808

8.  The response to L-carnitine and glycine therapy in isovaleric acidaemia.

Authors:  C de Sousa; R A Chalmers; T E Stacey; B M Tracey; C M Weaver; D Bradley
Journal:  Eur J Pediatr       Date:  1986-02       Impact factor: 3.183

9.  Isovaleric acidemia presenting as diabetic ketoacidosis: a case report.

Authors:  Mustafa Kılıç; Nazan Kaymaz; Rıza Köksal Özgül
Journal:  J Clin Res Pediatr Endocrinol       Date:  2014

10.  Isovaleric acid ameliorates ovariectomy-induced osteoporosis by inhibiting osteoclast differentiation.

Authors:  Kwang Min Cho; Ye Seon Kim; Mingyu Lee; Ha Young Lee; Yoe-Sik Bae
Journal:  J Cell Mol Med       Date:  2021-03-25       Impact factor: 5.310
  10 in total

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