Glycerol kinase deficiency: a metabolic cause of global developmental delay

被引：0
|
作者：
Ribeiro, Andreia I. [1 ]
Pinto, Sara [1 ]
Ayres-Pereira, Isabel [1 ]
Vieira, Ana [2 ]
Valongo, Carla [3 ]
Passas, Armanda [1 ]
Lopes, Ana [1 ]
Santos, Helena [1 ]
机构：
[1] Ctr Hosp Vila Nova de Gaia & Espinho, Serv Pediat, Rua Francisco Sa Carneiro S-N, P-4400129 Vila Nova De Gaia, Portugal
[2] Ctr Hosp Vila Nova de Gaia & Espinho, Serv Nutr, Vila Nova De Gaia, Portugal
[3] Inst Nacl Saude Doutor Ricardo Jorge, Oporto, Portugal
来源：
REVISTA DE NEUROLOGIA | 2019年 / 68卷 / 04期
关键词：
CONGENITAL ADRENAL HYPOPLASIA; GENE; FAMILIES;
D O I：
10.33588/rn.6804.2018333
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
引用
收藏
页码：179 / 180
页数：2
相关论文
共 50 条
  • [1] Fumarate hydratase deficiency - A rare cause of developmental delay and seizures
    De Meirleir, L.
    Hansikova, H.
    Zeman, J.
    Tesarova, M.
    Segers, A.
    De Rademaeker, M.
    Gerlo, E.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2006, 29 : 106 - 106
  • [2] Digging Out Metabolic Causes in Global Developmental Delay
    Gupta, Neerja
    Saranya, S. Devi
    INDIAN JOURNAL OF PEDIATRICS, 2025, 92 (02): : 111 - 111
  • [3] Maternal thyroid deficiency: Another consideration in global developmental delay
    Barness, LA
    Klein, RZ
    JOURNAL OF PEDIATRICS, 2001, 138 (04): : 611 - 612
  • [4] Global metabolic effects of glycerol kinase overexpression in rat hepatoma cells
    Sriram, Ganesh
    Rahib, Lola
    He, Jian-Sen
    Campos, Allison E.
    Parr, Lilly S.
    Liao, James C.
    Dipple, Katrina M.
    MOLECULAR GENETICS AND METABOLISM, 2008, 93 (02) : 145 - 159
  • [5] Hyperketonaemia in glycerol kinase deficiency
    Sjarif, DR
    Dorland, L
    Sperl, W
    de Koning, TJ
    Beemer, FA
    Poll-The, BT
    Duran, M
    JOURNAL OF INHERITED METABOLIC DISEASE, 2000, 23 (07) : 760 - 764
  • [6] Iron deficiency in children with global developmental delay and autism spectrum disorder
    Sidrak, Samuel
    Yoong, Terence
    Woolfenden, Susan
    JOURNAL OF PAEDIATRICS AND CHILD HEALTH, 2014, 50 (05) : 356 - 361
  • [7] WHAT IS THE INCIDENCE OF BIOTIN DEFICIENCY IN PRESCHOOL CHILDREN WITH GLOBAL DEVELOPMENTAL DELAY?
    Ogundele, Michael O.
    ARCHIVES OF DISEASE IN CHILDHOOD, 2011, 96 (09) : 895 - U174
  • [8] MUSCLE GLYCEROL KINASE IN DUCHENNE DYSTROPHY AND GLYCEROL KINASE-DEFICIENCY
    SELTZER, WK
    ANGELINI, C
    DHARIWAL, G
    RINGEL, SP
    MCCABE, ERB
    MUSCLE & NERVE, 1989, 12 (04) : 307 - 313
  • [9] Cerebral folate deficiency: a treatable cause of late deterioration in epilepsy with developmental delay
    Chowdhury, Fahmida Amin
    Sokolov, Elisaveta
    Anderson, Jessica
    Josifova, Dragana J.
    Nashef, Lina
    PRACTICAL NEUROLOGY, 2024, 24 (01) : 56 - 59
  • [10] VITAMIN B12 DEFICIENCY: A TREATABLE CAUSE OF DEVELOPMENTAL DELAY IN INFANCY
    Ganesan, Subramanian
    Thanawala, Nehal
    Hussain, Nahin
    JOURNAL OF PAEDIATRICS AND CHILD HEALTH, 2013, 49 (04) : E348 - E349
12345