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
来源：
MOLECULAR GENETICS AND METABOLISM | 2023年 / 138卷 / 03期
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
  • [1] Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California
    Gallant, Natalie M.
    Leydiker, Karen
    Tang, Hao
    Feuchtbaum, Lisa
    Lorey, Fred
    Puckett, Rebecca
    Deignan, Joshua L.
    Neidich, Julie
    Dorrani, Naghmeh
    Chang, Erica
    Barshop, Bruce A.
    Cederbaum, Stephen D.
    Abdenur, Jose E.
    Wang, Raymond Y.
    MOLECULAR GENETICS AND METABOLISM, 2012, 106 (01) : 55 - 61
  • [2] CLINICAL AND BIOCHEMICAL CHARACTERISTICS OF PEROXISOMAL DISORDERS - AN UPDATE
    WANDERS, RJA
    BARTH, PG
    SCHUTGENS, RBH
    TAGER, JM
    EUROPEAN JOURNAL OF PEDIATRICS, 1994, 153 (07) : S44 - S48
  • [3] Peroxisomal disorders and newborn screening
    Tortorelli, S.
    Turgeon, C. T.
    Magera, M. J.
    Hubbard, W. C.
    Moser, A. B.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2008, 31 : 65 - 65
  • [4] Peroxisomal disorders: Clinical, biochemical, and molecular aspects
    Wanders, RJA
    NEUROCHEMICAL RESEARCH, 1999, 24 (04) : 565 - 580
  • [5] Peroxisomal Disorders: Clinical, Biochemical, and Molecular Aspects
    Ronald J.A. Wanders
    Neurochemical Research, 1999, 24 : 565 - 580
  • [6] GALACTOSEMIA IDENTIFIED IN NEWBORN SCREENING-PROGRAM - CLINICAL AND BIOCHEMICAL CHARACTERISTICS
    KELLY, S
    NEW YORK STATE JOURNAL OF MEDICINE, 1980, 80 (12) : 1836 - 1839
  • [7] Newborn screening compared to clinical identification of biochemical genetic disorders
    Waisbren, SE
    Read, CY
    Ampola, M
    Brewster, TG
    Demmer, L
    Greenstein, R
    Ingham, CL
    Korson, M
    Msall, M
    Pueschel, S
    Seashore, M
    Shih, VE
    Levy, HL
    JOURNAL OF INHERITED METABOLIC DISEASE, 2002, 25 (07) : 599 - 600
  • [8] Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected via newborn screen in the state of California
    Gallant, Natalie M.
    Leydiker, Karen
    Tang, Hao
    Feuchtbaum, Lisa
    Lorey, Fred
    Dorrani, Naghmeh
    Chang, Erica
    Puckett, Rebecca
    Barshop, Bruce A.
    Cederbaum, Stephen D.
    Abdenur, Jose E.
    Wang, Raymond Y.
    MOLECULAR GENETICS AND METABOLISM, 2011, 102 (03) : 247 - 247
  • [9] PEROXISOMAL DISORDERS - BIOCHEMICAL AND CLINICAL DIAGNOSTIC CONSIDERATIONS
    SINGH, I
    JOHNSON, GH
    BROWN, FR
    AMERICAN JOURNAL OF DISEASES OF CHILDREN, 1988, 142 (12): : 1297 - 1301
  • [10] Clinical and Biochemical Pitfalls in the Diagnosis of Peroxisomal Disorders
    Klouwer, Femke C. C.
    Huffnagel, Irene C.
    Ferdinandusse, Sacha
    Waterham, Hans R.
    Wanders, Ronald J. A.
    Engelen, Marc
    Poll-The, Bwee Tien
    NEUROPEDIATRICS, 2016, 47 (04) : 205 - 220
12345