共 2 条
A Case of Increased C5-OH Acylcarnitine
被引:3
作者:

Peake, Roy W. A.
论文数: 0 引用数: 0
h-index: 0
机构:
Boston Childrens Hosp, Dept Lab Med, Boston, MA 02115 USA Boston Childrens Hosp, Dept Lab Med, Boston, MA 02115 USA
机构:
[1] Boston Childrens Hosp, Dept Lab Med, Boston, MA 02115 USA
关键词:
3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY;
D O I:
10.1373/clinchem.2016.257600
中图分类号:
R446 [实验室诊断];
R-33 [实验医学、医学实验];
学科分类号:
1001 ;
摘要:
引用
收藏
页码:1278 / 1279
页数:2
相关论文
共 2 条
[1]
Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program
[J].
Rips, Jonathan
;
Almashanu, Shlomo
;
Mandel, Hanna
;
Josephsberg, Sagi
;
Lerman-Sagie, Tally
;
Zerem, Ayelet
;
Podeh, Ben
;
Anikster, Yair
;
Shaag, Avraham
;
Luder, Anthony
;
Chacham, Orna Staretz
;
Spiegel, Ronen
.
JOURNAL OF INHERITED METABOLIC DISEASE,
2016, 39 (02)
:211-217

Rips, Jonathan
论文数: 0 引用数: 0
h-index: 0
机构:
Technion Israel Inst Technol, Rappaport Sch Med, Haifa, Israel Technion Israel Inst Technol, Rappaport Sch Med, Haifa, Israel

Almashanu, Shlomo
论文数: 0 引用数: 0
h-index: 0
机构:
Israeli Minist Hlth, Natl Newborn Screening Program, Tel HaShomer Sheba Med Ctr, Ramat Gan, Israel Technion Israel Inst Technol, Rappaport Sch Med, Haifa, Israel

Mandel, Hanna
论文数: 0 引用数: 0
h-index: 0
机构:
Technion Israel Inst Technol, Rappaport Sch Med, Haifa, Israel
Rambam Med Ctr, Metab Unit, Haifa, Israel Technion Israel Inst Technol, Rappaport Sch Med, Haifa, Israel

Josephsberg, Sagi
论文数: 0 引用数: 0
h-index: 0
机构:
Kaplan Med Ctr, Genet Inst, Rehovot, Israel
Tel Aviv Univ, Sackler Fac Med, IL-69978 Tel Aviv, Israel Technion Israel Inst Technol, Rappaport Sch Med, Haifa, Israel

Lerman-Sagie, Tally
论文数: 0 引用数: 0
h-index: 0
机构:
Tel Aviv Univ, Sackler Fac Med, IL-69978 Tel Aviv, Israel
Wolfson Med Ctr, Pediat Neurol Unit, Metab Neurogenet Serv, Holon, Israel Technion Israel Inst Technol, Rappaport Sch Med, Haifa, Israel

Zerem, Ayelet
论文数: 0 引用数: 0
h-index: 0
机构:
Wolfson Med Ctr, Pediat Neurol Unit, Metab Neurogenet Serv, Holon, Israel Technion Israel Inst Technol, Rappaport Sch Med, Haifa, Israel

Podeh, Ben
论文数: 0 引用数: 0
h-index: 0
机构:
Tel Aviv Univ, Sackler Fac Med, IL-69978 Tel Aviv, Israel
Chaim Sheba Med Ctr, Metab Unit, IL-52621 Tel Hashomer, Israel Technion Israel Inst Technol, Rappaport Sch Med, Haifa, Israel

Anikster, Yair
论文数: 0 引用数: 0
h-index: 0
机构:
Tel Aviv Univ, Sackler Fac Med, IL-69978 Tel Aviv, Israel
Chaim Sheba Med Ctr, Metab Unit, IL-52621 Tel Hashomer, Israel Technion Israel Inst Technol, Rappaport Sch Med, Haifa, Israel

Shaag, Avraham
论文数: 0 引用数: 0
h-index: 0
机构:
Hebrew Univ Jerusalem, Hadassah Med Ctr, Monique & Jacques Roboh Dept Genet Res, Jerusalem, Israel Technion Israel Inst Technol, Rappaport Sch Med, Haifa, Israel

Luder, Anthony
论文数: 0 引用数: 0
h-index: 0
机构:
Bar Ilan Univ, Dept Paediat, Ziv Med Ctr, Safed, Israel
Bar Ilan Univ, Fac Med Galilee, Safed, Israel Technion Israel Inst Technol, Rappaport Sch Med, Haifa, Israel

Chacham, Orna Staretz
论文数: 0 引用数: 0
h-index: 0
机构:
Soroka Med Ctr, Neonatal Intens Care Unit, IL-84101 Beer Sheva, Israel Technion Israel Inst Technol, Rappaport Sch Med, Haifa, Israel

Spiegel, Ronen
论文数: 0 引用数: 0
h-index: 0
机构:
Technion Israel Inst Technol, Rappaport Sch Med, Haifa, Israel
Emek Med Ctr, Dept Pediat B, IL-18101 Afula, Israel Technion Israel Inst Technol, Rappaport Sch Med, Haifa, Israel
[2]
3-Methylcrotonyl-CoA carboxylase deficiency: to screen or not to screen?
[J].
Wilcken, Bridget
.
JOURNAL OF INHERITED METABOLIC DISEASE,
2016, 39 (02)
:171-172

Wilcken, Bridget
论文数: 0 引用数: 0
h-index: 0
机构:
Sydney Childrens Hosp Network, Sydney, NSW, Australia
Univ Sydney, Sydney, NSW 2006, Australia Sydney Childrens Hosp Network, Sydney, NSW, Australia