SULPHITE OXIDASE DEFICIENCY IN THREE MALAYSIAN PATIENTS: CLINICAL BIOCHEMICAL AND MOLECULAR FINDINGS

被引：0
|
作者：
Chen, B. C. [1 ]
Shanti, B. [1 ]
Chng, G. S. [1 ]
Norsiah, M. D. [2 ]
Vigneswari, G. [3 ]
Keng, W. T. [1 ]
Ngu, L. H. [1 ]
机构：
[1] Kuala Lumpur Hosp, Dept Genet, Kuala Lumpur, Malaysia
[2] Inst Med Res, Mol & Diagnost Prot Unit, Kuala Lumpur, Malaysia
[3] Penang Hosp, Dept Ped Neuro, George Town, Malaysia
来源：
JOURNAL OF INHERITED METABOLIC DISEASE | 2010年 / 33卷
关键词：
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：S20 / S20
页数：1
相关论文
共 50 条
  • [31] A newborn with VLCAD deficiency Clinical, biochemical, and histopathological findings
    Aliefendioglu, Didem
    Dursun, Ali
    Coskun, Turgay
    Akcoeren, Zuhal
    Wanders, Ronald J. A.
    Waterham, Hans R.
    [J]. EUROPEAN JOURNAL OF PEDIATRICS, 2007, 166 (10) : 1077 - 1080
  • [32] PEROXISOMAL BIFUNCTIONAL ENZYME DEFICIENCY - BIOCHEMICAL AND CLINICAL FINDINGS
    MCGUINNESS, MC
    THEDA, C
    MOSER, AB
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1991, 49 (04) : 101 - 101
  • [33] GALACTOKINASE DEFICIENCY - CLINICAL AND BIOCHEMICAL FINDINGS IN A NEW KINDRED
    PICKERING, WR
    HOWELL, RR
    [J]. JOURNAL OF PEDIATRICS, 1972, 81 (01): : 50 - +
  • [34] A NEWBORN WITH VLCAD DEFICIENCY CLINICAL, BIOCHEMICAL, AND HISTOPATHOLOGICAL FINDINGS
    Aliefendioglu, D.
    Dursun, A.
    Coskun, T.
    Akcoren, Z.
    Wanders, R. J. A.
    [J]. JOURNAL OF INHERITED METABOLIC DISEASE, 2005, 28 : 106 - 106
  • [35] PEROXISOMAL BIFUNCTIONAL ENZYME DEFICIENCY - BIOCHEMICAL AND CLINICAL FINDINGS
    THEDA, C
    MCGUINNESS, MC
    MOSER, HW
    [J]. PEDIATRIC RESEARCH, 1991, 29 (04) : A364 - A364
  • [36] Leigh disease:: Clinical, neuroradiologic, and biochemical study of three new cases with cytochrome c oxidase deficiency
    Savasta, S
    Comi, GP
    Perini, MP
    Lupi, A
    Strazzer, S
    Rognoni, F
    Rossoni, R
    [J]. JOURNAL OF CHILD NEUROLOGY, 2001, 16 (08) : 608 - 613
  • [37] Hypoxanthine-guanine phosphoribosyltransferase deficiency:: Biochemical and molecular findings in six Argentine patients
    Larovere, L. E.
    O'Neill, J. P.
    Randall, M.
    Fairbanks, L. D.
    Guelbert, N.
    Czornyi, L.
    de Kremer, R. Dodelson
    [J]. NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS, 2007, 26 (03): : 255 - 258
  • [38] Clinical and Molecular Findings in Three Japanese Patients with Crystalline Retinopathy
    Zi-Bing Jin
    Shigeo Ito
    Yoshihiro Saito
    Yuji Inoue
    Yasuo Yanagi
    Nobuhisa Nao-i
    [J]. Japanese Journal of Ophthalmology, 2006, 50 : 426 - 431
  • [39] Clinical and molecular findings in three Japanese patients with crystalline retinopathy
    Jin, Zi-Bing
    Ito, Shigeo
    Saito, Yoshihiro
    Inoue, Yuji
    Yanagi, Yasuo
    Nao-i, Nobuhisa
    [J]. JAPANESE JOURNAL OF OPHTHALMOLOGY, 2006, 50 (05) : 426 - 431
  • [40] Clinical, biochemical, and molecular profiles of three Sri Lankan neonates with pyruvate carboxylase deficiency
    Jasinge, Eresha
    Fernando, Mihika
    Indika, Neluwa-Liyanage Ruwan
    Ratnayake, Pyara Dilani
    Gamaathige, Nalin
    Ratnaranjith, Ratnanathan
    Schroeder, Sabine
    Jones, Patricia
    Volha, Skrahina
    Jayasena, Subhashinie
    Gunaratna, Anusha Varuni
    Bandara Ekanayake, Asitha Niroshana
    Rolfs, Arndt
    [J]. ADVANCES IN LABORATORY MEDICINE-AVANCES EN MEDICINA DE LABORATORIO, 2024, 5 (02): : 205 - 212
12345