BIOCHEMICAL, MOLECULAR, AND CLINICAL CHARACTERISTICS OF PEROXISOMAL DISORDERS DETECTED BY CALIFORNIA NEWBORN SCREENING (NBS) PROGRAM

被引:0
|
作者
Beltran, Carlos Mares [1 ]
Abdenur, Jose [1 ]
Chang, Richard [1 ]
Barrick, Rebekah [1 ]
Spongberg, Rebecca [1 ]
Tise, Christina G. [2 ,3 ]
Niehaus, Annie D. [2 ,3 ]
Enns, Gregory [2 ,3 ]
机构
[1] Childrens Hosp Orange Cty CHOC, Div Metab Disorders, Orange, CA USA
[2] Lucile Packard Childrens Hosp, Div Med Genet, Dept Pediat, Stanford, CA USA
[3] Stanford Univ, Stanford, CA USA
关键词
D O I
10.1016/j.ymgme.2023.107455
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
081
引用
收藏
页码:72 / 72
页数:1
相关论文
共 50 条
  • [41] Biochemical, molecular and outcome analysis of eight chinese asymptomatic individuals with methyl malonic acidemia detected through newborn screening
    Han, Lianshu
    Wu, Shengnan
    Ye, Jun
    Qiu, Wenjuan
    Zhang, Huiwen
    Gao, Xiaolan
    Wang, Yu
    Gong, Zhuwen
    Jin, Jing
    Gu, Xuefan
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2015, 167 (10) : 2300 - 2305
  • [42] NEWBORN SCREENING (NBS) FOR DISORDERS OF PROPIONATE, METHIONINE AND COBALAMIN METABOLISM USING SECOND TIER TESTING
    Gavrilov, D.
    Tortorelli, S.
    Turgeon, C.
    Oglesbee, D.
    Raymond, K.
    Rinaldo, P.
    Matern, D.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2010, 33 : S49 - S49
  • [43] Newborn screening for biotinidase deficiency in Brazil: biochemical and molecular characterizations
    Neto, EC
    Schulte, J
    Rubim, R
    Lewis, E
    DeMari, J
    Castilhos, C
    Brites, A
    Giugliani, R
    Jensen, KP
    Wolf, B
    BRAZILIAN JOURNAL OF MEDICAL AND BIOLOGICAL RESEARCH, 2004, 37 (03) : 295 - 299
  • [44] Characteristics and outcomes of patients with formiminoglutamic aciduria detected through newborn screening
    Ahrens-Nicklas, Rebecca C.
    Ganetzky, Rebecca D.
    Rush, Peggy W.
    Conway, Robert L.
    Ficicioglu, Can
    JOURNAL OF INHERITED METABOLIC DISEASE, 2019, 42 (01) : 140 - 146
  • [45] Clinical Characteristics in Children with Renal Glucosuria Detected by Urine Glucose Screening Program at School in Tokyo
    Urakami, Tatsuhiko
    Mine, Yusuke
    Aoki, Masako
    Okuno, Misako
    Suzuki, Junichi
    DIABETES, 2016, 65 : A334 - A334
  • [46] CYSTIC FIBROSIS CASES DETECTED BY NEWBORN SCREENING PROGRAM IN NUEVO LEON, MEXICO
    Hinojosa-Amaya, A. B.
    Torres, R.
    Lopez-Uriarte, G. A.
    Arredondo-Vazquez, P.
    Villarreal-Perez, J. Z.
    Bustamante, A. E.
    Martinez de Villarreal, L. E.
    PEDIATRIC PULMONOLOGY, 2016, 51 : 389 - 389
  • [47] Routine nutritional evaluation identifies disordered peroxisomal function in a neonate with isovaleric acidemia detected through newborn screening
    Bonilla, Guerrero R.
    Tortorelli, S.
    Matern, D.
    Rinaldo, P.
    Gavrilov, D.
    Vockley, J.
    Walters, N.
    Cropcii, L. J.
    Wolfe, L. A.
    Gibson, K. M.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2007, 30 : 144 - 144
  • [48] Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in China
    Zhang, Ting
    Shen, Yaping
    Xu, Yanhua
    Wu, Dingwen
    Chen, Chi
    Yang, Rulai
    CLINICA CHIMICA ACTA, 2023, 547
  • [49] Duarte (DG) galactosemia: A study of biochemical and neurodevelopmental assessment in children detected by newborn screening
    Ficicioglu, C.
    Thomas, N.
    Yager, C.
    Gallagher, P. R.
    Hussa, C.
    Forbes, B. J.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2008, 31 : 44 - 44
  • [50] Clinical trials in infants with cystic fibrosis detected following newborn screening
    Stick, Stephen M.
    PAEDIATRIC RESPIRATORY REVIEWS, 2008, 9 (03) : 176 - 180