Mixed coagulopathy in patient with peroxisomal disorder, Zellweger syndrome

被引：0
|
作者：
Farris, Nicholas [1 ]
Sandell, Angela [2 ]
机构：
[1] Univ Rochester, Med Ctr, Div Pediat Hematol & Oncol, 601 Elmwood Ave,Box 777, Rochester, NY 14642 USA
[2] Univ Rochester, Med Ctr, Div Gastroenterol, Rochester, NY 14642 USA
来源：
PEDIATRIC BLOOD & CANCER | 2024年 / 71卷 / 08期
关键词：
D O I：
10.1002/pbc.31094
中图分类号：
R73 [肿瘤学];
学科分类号：
100214 ;
摘要：
引用
下载
收藏
页数：2
相关论文
共 50 条
  • [21] Peroxisomal diseases:: an analysis of ferritin levels in Zellweger's cerebrohepatorenal syndrome
    Carrascosa-Romero, M. C.
    Vidal-Company, A.
    Gil-Pons, E.
    Perez-Pardo, A.
    Marco-Giner, J.
    Tebar-Gil, R.
    REVISTA DE NEUROLOGIA, 2008, 46 (10) : 636 - 637
  • [22] PSEUDO-ZELLWEGER SYNDROME - DEFICIENCIES IN SEVERAL PEROXISOMAL OXIDATIVE ACTIVITIES
    GOLDFISCHER, S
    COLLINS, J
    RAPIN, I
    NEUMANN, P
    NEGLIA, W
    SPIRO, AJ
    ISHII, T
    ROELS, F
    VAMECQ, J
    VANHOOF, F
    JOURNAL OF PEDIATRICS, 1986, 108 (01): : 25 - 32
  • [23] PEROXISOMES AND PEROXISOMAL FUNCTIONS IN MUSCLE - STUDIES WITH MUSCLE-CELLS FROM CONTROLS AND A PATIENT WITH THE CEREBROHEPATORENAL (ZELLWEGER) SYNDROME
    WANDERS, RJA
    BARTH, PG
    VANROERMUND, CWT
    OFMAN, R
    WOLTERMAN, R
    SCHUTGENS, RBH
    TAGER, JM
    VANDENBOSCH, H
    BOLHUIS, PA
    EXPERIMENTAL CELL RESEARCH, 1987, 170 (01) : 147 - 152
  • [24] ACTIVITY OF PEROXISOMAL ENZYMES AND INTRACELLULAR-DISTRIBUTION OF CATALASE IN ZELLWEGER SYNDROME
    WANDERS, RJA
    KOS, M
    ROEST, B
    MEIJER, AJ
    SCHRAKAMP, G
    HEYMANS, HSA
    TEGELAERS, WHH
    VANDENBOSCH, H
    SCHUTGENS, RBH
    TAGER, JM
    BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1984, 123 (03) : 1054 - 1061
  • [25] PEROXISOMAL BIOGENESIS DISORDER 6A (ZELLWEGER) IN A NEONATE WITH VENTRICULOMEGALY AND SEVERE HYPOTONIA
    Nuttli, A.
    Gallois, J.
    Olister, S.
    Zambrano, R.
    JOURNAL OF INVESTIGATIVE MEDICINE, 2020, 68 (02) : 587 - 587
  • [26] Zellweger syndrome - a lethal peroxisome biogenesis disorder
    Rafique, Muhammad
    Zia, Shumaila
    Rana, Muhammad Nasir
    Mostafa, Ossama A.
    JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2013, 26 (3-4): : 377 - 379
  • [27] Hyperinsulinism in a patient with a Zellweger Spectrum Disorder and a 16p11.2 deletion syndrome
    van Konijnenburg, Eva M. M. Hoytema
    Luirink, Ilse K.
    Schagen, Sebastian E. E.
    Engelen, Marc
    Berendse, Kevin
    Poll-The, Bwee Tien
    Chegary, Malika
    MOLECULAR GENETICS AND METABOLISM REPORTS, 2020, 23
  • [28] Neuronal migration defect in Zellweger syndrome is caused by peroxisomal dysfunction in liver and in brain
    Gressens, P
    Janssen, A
    Grabenbauer, M
    Baumgart, E
    Van Veldhoven, PP
    Baes, M
    PEDIATRIC RESEARCH, 2002, 51 (04) : 444A - 444A
  • [29] A NEW VARIANT OF ZELLWEGER-SYNDROME WITH NORMAL PEROXISOMAL FUNCTIONS IN CULTURED FIBROBLASTS
    SCHUTGENS, RBH
    WANDERS, RJA
    JAKOBS, C
    ARSLANKIRCHNER, M
    MILLER, K
    WIEACKER, P
    HUNNEMANN, D
    HURTER, P
    VONSCHUTZ, M
    JOURNAL OF INHERITED METABOLIC DISEASE, 1994, 17 (03) : 319 - 322
  • [30] HISTOCHEMISTRY OF PEROXISOMAL ENZYME-ACTIVITIES - A TOOL IN THE DIAGNOSIS OF ZELLWEGER-SYNDROME
    FREDERIKS, WM
    BOSCH, KS
    ANKUM, M
    WANDERS, RJA
    JOURNAL OF INHERITED METABOLIC DISEASE, 1993, 16 (06) : 921 - 928
12345