首页
学术期刊
论文检测
AIGC检测
热点
更多
数据
3-HYDROXY-3-METHYLGLUTARYL-COA LYASE DEFICIENCY
被引:9
|
作者
:
WALTER, JH
论文数:
0
引用数:
0
h-index:
0
WALTER, JH
CLAYTON, PT
论文数:
0
引用数:
0
h-index:
0
CLAYTON, PT
LEONARD, JV
论文数:
0
引用数:
0
h-index:
0
LEONARD, JV
机构
:
来源
:
JOURNAL OF INHERITED METABOLIC DISEASE
|
1986年
/ 9卷
/ 03期
关键词
:
D O I
:
10.1007/BF01799665
中图分类号
:
R5 [内科学];
学科分类号
:
1002 ;
100201 ;
摘要
:
引用
收藏
页码:287 / 288
页数:2
相关论文
共 50 条
[1]
3-Hydroxy-3-methylglutaryl-CoA (HMG-CoA) Lyase Deficiency
Ustkoyuncu, Pembe Soylu
论文数:
0
引用数:
0
h-index:
0
机构:
Erciyes Univ, Fac Med, Div Pediat Nutr & Metab, Dept Pediat, Kayseri, Turkey
Erciyes Univ, Fac Med, Div Pediat Nutr & Metab, Dept Pediat, Kayseri, Turkey
Ustkoyuncu, Pembe Soylu
Kendirci, Mustafa
论文数:
0
引用数:
0
h-index:
0
机构:
Erciyes Univ, Fac Med, Div Pediat Nutr & Metab, Dept Pediat, Kayseri, Turkey
Erciyes Univ, Fac Med, Div Pediat Nutr & Metab, Dept Pediat, Kayseri, Turkey
Kendirci, Mustafa
Gokay, Songul
论文数:
0
引用数:
0
h-index:
0
机构:
Erciyes Univ, Fac Med, Div Pediat Nutr & Metab, Dept Pediat, Kayseri, Turkey
Erciyes Univ, Fac Med, Div Pediat Nutr & Metab, Dept Pediat, Kayseri, Turkey
Gokay, Songul
Kardas, Fatih
论文数:
0
引用数:
0
h-index:
0
机构:
Erciyes Univ, Fac Med, Div Pediat Nutr & Metab, Dept Pediat, Kayseri, Turkey
Erciyes Univ, Fac Med, Div Pediat Nutr & Metab, Dept Pediat, Kayseri, Turkey
Kardas, Fatih
ERCIYES MEDICAL JOURNAL,
2018,
40
(03)
: 169
-
171
[2]
3-hydroxy-3-methylglutaryl-CoA lyase deficiency in an adult with leukoencephalopathy
Bischof, F
论文数:
0
引用数:
0
h-index:
0
机构:
Hert Inst Clin Brain Res, Dept Gen Neurol, D-72076 Tubingen, Germany
Bischof, F
Nägele, T
论文数:
0
引用数:
0
h-index:
0
机构:
Hert Inst Clin Brain Res, Dept Gen Neurol, D-72076 Tubingen, Germany
Nägele, T
Wanders, RJA
论文数:
0
引用数:
0
h-index:
0
机构:
Hert Inst Clin Brain Res, Dept Gen Neurol, D-72076 Tubingen, Germany
Wanders, RJA
Trefz, FK
论文数:
0
引用数:
0
h-index:
0
机构:
Hert Inst Clin Brain Res, Dept Gen Neurol, D-72076 Tubingen, Germany
Trefz, FK
Melms, A
论文数:
0
引用数:
0
h-index:
0
机构:
Hert Inst Clin Brain Res, Dept Gen Neurol, D-72076 Tubingen, Germany
Melms, A
ANNALS OF NEUROLOGY,
2004,
56
(05)
: 727
-
730
[3]
Human 3-hydroxy-3-methylglutaryl-CoA lyase
Miziorko, HM
论文数:
0
引用数:
0
h-index:
0
机构:
Med Coll Wisconsin, Dept Biochem, Milwaukee, WI 53226 USA
Med Coll Wisconsin, Dept Biochem, Milwaukee, WI 53226 USA
Miziorko, HM
Narasimhan, C
论文数:
0
引用数:
0
h-index:
0
机构:
Med Coll Wisconsin, Dept Biochem, Milwaukee, WI 53226 USA
Med Coll Wisconsin, Dept Biochem, Milwaukee, WI 53226 USA
Narasimhan, C
Roberts, JR
论文数:
0
引用数:
0
h-index:
0
机构:
Med Coll Wisconsin, Dept Biochem, Milwaukee, WI 53226 USA
Med Coll Wisconsin, Dept Biochem, Milwaukee, WI 53226 USA
Roberts, JR
BRANCHED-CHAIN AMINO ACIDS, PT B,
2000,
324
: 150
-
161
[4]
ASSAY OF 3-HYDROXY-3-METHYLGLUTARYL-COA LYASE
GIBSON, KM
论文数:
0
引用数:
0
h-index:
0
GIBSON, KM
METHODS IN ENZYMOLOGY,
1988,
166
: 219
-
225
[5]
3-hydroxy-3-methylglutaryl-CoA lyase deficiency in a boy with VATER association
Al-Essa, M
论文数:
0
引用数:
0
h-index:
0
机构:
King Faisal Specialist Hosp & Res Ctr, Dept Pediat, Riyadh 11211, Saudi Arabia
Al-Essa, M
Rashed, M
论文数:
0
引用数:
0
h-index:
0
机构:
King Faisal Specialist Hosp & Res Ctr, Dept Pediat, Riyadh 11211, Saudi Arabia
Rashed, M
Ozand, PT
论文数:
0
引用数:
0
h-index:
0
机构:
King Faisal Specialist Hosp & Res Ctr, Dept Pediat, Riyadh 11211, Saudi Arabia
Ozand, PT
JOURNAL OF INHERITED METABOLIC DISEASE,
1998,
21
(04)
: 443
-
444
[6]
FATAL CARDIOMYOPATHY ASSOCIATED WITH 3-HYDROXY-3-METHYLGLUTARYL-COA LYASE DEFICIENCY
GIBSON, KM
论文数:
0
引用数:
0
h-index:
0
机构:
BAYLOR UNIV,MED CTR,KIMBERLY H COURTWRIGHT & JOSEPH W SUMMERS METAB D,DALLAS,TX
GIBSON, KM
CASSIDY, SB
论文数:
0
引用数:
0
h-index:
0
机构:
BAYLOR UNIV,MED CTR,KIMBERLY H COURTWRIGHT & JOSEPH W SUMMERS METAB D,DALLAS,TX
CASSIDY, SB
SEAVER, LH
论文数:
0
引用数:
0
h-index:
0
机构:
BAYLOR UNIV,MED CTR,KIMBERLY H COURTWRIGHT & JOSEPH W SUMMERS METAB D,DALLAS,TX
SEAVER, LH
WANDERS, RJA
论文数:
0
引用数:
0
h-index:
0
机构:
BAYLOR UNIV,MED CTR,KIMBERLY H COURTWRIGHT & JOSEPH W SUMMERS METAB D,DALLAS,TX
WANDERS, RJA
KENNAWAY, NG
论文数:
0
引用数:
0
h-index:
0
机构:
BAYLOR UNIV,MED CTR,KIMBERLY H COURTWRIGHT & JOSEPH W SUMMERS METAB D,DALLAS,TX
KENNAWAY, NG
MITCHELL, GA
论文数:
0
引用数:
0
h-index:
0
机构:
BAYLOR UNIV,MED CTR,KIMBERLY H COURTWRIGHT & JOSEPH W SUMMERS METAB D,DALLAS,TX
MITCHELL, GA
SPARK, RP
论文数:
0
引用数:
0
h-index:
0
机构:
BAYLOR UNIV,MED CTR,KIMBERLY H COURTWRIGHT & JOSEPH W SUMMERS METAB D,DALLAS,TX
SPARK, RP
JOURNAL OF INHERITED METABOLIC DISEASE,
1994,
17
(03)
: 291
-
294
[7]
The Management of Pregnancy and Delivery in 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency
Pipitone, Angela
论文数:
0
引用数:
0
h-index:
0
机构:
Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD USA
Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD USA
Pipitone, Angela
Raval, Donna B.
论文数:
0
引用数:
0
h-index:
0
机构:
NHGRI, Genet & Mol Biol Branch, NIH, Bethesda, MD 20892 USA
Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD USA
Raval, Donna B.
Duis, Jessica
论文数:
0
引用数:
0
h-index:
0
机构:
Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD USA
Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD USA
Duis, Jessica
Vernon, Hilary
论文数:
0
引用数:
0
h-index:
0
机构:
Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD USA
Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD USA
Vernon, Hilary
Martin, Regina
论文数:
0
引用数:
0
h-index:
0
机构:
Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD USA
Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD USA
Martin, Regina
Hamosh, Ada
论文数:
0
引用数:
0
h-index:
0
机构:
Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD USA
Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD USA
Hamosh, Ada
Valle, David
论文数:
0
引用数:
0
h-index:
0
机构:
Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD USA
Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD USA
Valle, David
Gunay-Aygun, Meral
论文数:
0
引用数:
0
h-index:
0
机构:
Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD USA
Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD USA
Gunay-Aygun, Meral
AMERICAN JOURNAL OF MEDICAL GENETICS PART A,
2016,
170
(06)
: 1600
-
1602
[8]
A nonsense mutation in the 3-hydroxy-3-methylglutaryl-CoA lyase gene produces exon skipping in two patients of different origin with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
Pie, J
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV BARCELONA,SCH PHARM,BIOCHEM UNIT,BARCELONA,SPAIN
Pie, J
Casals, N
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV BARCELONA,SCH PHARM,BIOCHEM UNIT,BARCELONA,SPAIN
Casals, N
Casale, CH
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV BARCELONA,SCH PHARM,BIOCHEM UNIT,BARCELONA,SPAIN
Casale, CH
Buesa, C
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV BARCELONA,SCH PHARM,BIOCHEM UNIT,BARCELONA,SPAIN
Buesa, C
Mascaro, C
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV BARCELONA,SCH PHARM,BIOCHEM UNIT,BARCELONA,SPAIN
Mascaro, C
Barcelo, A
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV BARCELONA,SCH PHARM,BIOCHEM UNIT,BARCELONA,SPAIN
Barcelo, A
Rolland, MO
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV BARCELONA,SCH PHARM,BIOCHEM UNIT,BARCELONA,SPAIN
Rolland, MO
Zabot, T
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV BARCELONA,SCH PHARM,BIOCHEM UNIT,BARCELONA,SPAIN
Zabot, T
Haro, D
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV BARCELONA,SCH PHARM,BIOCHEM UNIT,BARCELONA,SPAIN
Haro, D
Eyskens, F
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV BARCELONA,SCH PHARM,BIOCHEM UNIT,BARCELONA,SPAIN
Eyskens, F
Divry, P
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV BARCELONA,SCH PHARM,BIOCHEM UNIT,BARCELONA,SPAIN
Divry, P
Hegardt, FG
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV BARCELONA,SCH PHARM,BIOCHEM UNIT,BARCELONA,SPAIN
Hegardt, FG
BIOCHEMICAL JOURNAL,
1997,
323
: 329
-
335
[9]
Pseudomonas mevalonii 3-hydroxy-3-methylglutaryl-CoA lyase
Miziorko, HM
论文数:
0
引用数:
0
h-index:
0
机构:
Med Coll Wisconsin, Dept Biochem, Milwaukee, WI 53226 USA
Med Coll Wisconsin, Dept Biochem, Milwaukee, WI 53226 USA
Miziorko, HM
Narasimhan, C
论文数:
0
引用数:
0
h-index:
0
机构:
Med Coll Wisconsin, Dept Biochem, Milwaukee, WI 53226 USA
Med Coll Wisconsin, Dept Biochem, Milwaukee, WI 53226 USA
Narasimhan, C
BRANCHED-CHAIN AMINO ACIDS, PT B,
2000,
324
: 139
-
149
[10]
SUDDEN-DEATH IN AN INFANT WITH 3-HYDROXY-3-METHYLGLUTARYL-COA LYASE DEFICIENCY
RIBES, A
论文数:
0
引用数:
0
h-index:
0
机构:
INST DEXEUS,DEPT PEDIAT,BARCELONA,SPAIN
RIBES, A
BRIONES, P
论文数:
0
引用数:
0
h-index:
0
机构:
INST DEXEUS,DEPT PEDIAT,BARCELONA,SPAIN
BRIONES, P
VILASECA, MA
论文数:
0
引用数:
0
h-index:
0
机构:
INST DEXEUS,DEPT PEDIAT,BARCELONA,SPAIN
VILASECA, MA
BARAIBAR, R
论文数:
0
引用数:
0
h-index:
0
机构:
INST DEXEUS,DEPT PEDIAT,BARCELONA,SPAIN
BARAIBAR, R
GAIRI, JM
论文数:
0
引用数:
0
h-index:
0
机构:
INST DEXEUS,DEPT PEDIAT,BARCELONA,SPAIN
GAIRI, JM
JOURNAL OF INHERITED METABOLIC DISEASE,
1990,
13
(05)
: 752
-
753
←
1
2
3
4
5
→