Screening for neuronal ceroid lipofuscinoses using filter paper blood spots

被引:0
|
作者
Lukacs, Z.
Schulz, A.
Orth, U.
Gal, A.
Kohlschuetter, A.
机构
[1] Univ Med Ctr Hamburg Eppendorf, Dept Pediat, Hamburg, Germany
[2] Univ Med Ctr Hamburg Eppendorf, Inst Clin Chem, Hamburg, Germany
[3] Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, Germany
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:23 / 23
页数:1
相关论文
共 50 条
  • [21] SCREENING FOR TETRAHYDROBIOPTERIN DEFICIENCIES USING DRIED BLOOD SPOTS ON FILTER PAPER
    Zurflueh, M.
    Fiori, L.
    Fiege, B.
    Giovannini, M.
    Kuru, N. B.
    Baykal, T.
    Demirkol, M.
    Kierat, L.
    Thoeny, B.
    Blau, N.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2005, 28 : 31 - 31
  • [22] Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper
    Zurflüh, MR
    Giovannini, M
    Fiori, L
    Fiege, B
    Gokdemir, Y
    Baykal, T
    Kierat, L
    Gärtner, KH
    Thöny, B
    Blau, N
    MOLECULAR GENETICS AND METABOLISM, 2005, 86 : S96 - S103
  • [23] Strategy for diagnosis of neuronal ceroid lipofuscinoses
    Oliva, Petra
    Mechtler, Thomas P.
    Streubel, Berthold
    Kasper, David C.
    MOLECULAR GENETICS AND METABOLISM, 2023, 138 (02) : 97 - 97
  • [24] Neurophysiological Findings in Neuronal Ceroid Lipofuscinoses
    Trivisano, Marina
    Ferretti, Alessandro
    Calabrese, Costanza
    Pietrafusa, Nicola
    Piscitello, Ludovica
    Pavia, Giusy Carfi'
    Vigevano, Federico
    Specchio, Nicola
    FRONTIERS IN NEUROLOGY, 2022, 13
  • [25] Morphological aspects of the neuronal ceroid lipofuscinoses
    Goebel, HH
    NEUROLOGICAL SCIENCES, 2000, 21 (03) : S27 - S33
  • [26] BATTENS DISEASE - NEURONAL CEROID LIPOFUSCINOSES
    RIDER, AJ
    RIDER, DL
    ARCHIVES OF BIOLOGY, 1985, 96 (03): : 369 - 370
  • [27] Bioinformatic perspectives in the neuronal ceroid lipofuscinoses
    Kmoch, Stanislav
    Stranecky, Viktor
    Emes, Richard D.
    Mitchison, Hannah M.
    BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 2013, 1832 (11): : 1831 - 1841
  • [28] Molecular genetics of the neuronal ceroid lipofuscinoses
    Mole, S
    Gardiner, M
    EPILEPSIA, 1999, 40 : 29 - 32
  • [29] Neuronal ceroid lipofuscinoses: research update
    Wisniewski, KE
    Kida, E
    Connell, F
    Zhong, N
    NEUROLOGICAL SCIENCES, 2000, 21 (03) : S49 - S56
  • [30] Prenatal diagnosis of the neuronal ceroid lipofuscinoses
    Kleijer, WJ
    van Diggelen, OP
    PRENATAL DIAGNOSIS, 2000, 20 (10) : 819 - 821