共 50 条
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Patient with multiple acyl-CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy: a case report
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Liuh Ling Goh
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Yingshan Lee
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Ee Shien Tan
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James Soon Chuan Lim
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Chia Wei Lim
;
Rinkoo Dalan
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BMC Medical Genomics,
11

Liuh Ling Goh
论文数: 0 引用数: 0
h-index: 0
机构: Tan Tock Seng Hospital,Molecular Diagnostic Laboratory

Yingshan Lee
论文数: 0 引用数: 0
h-index: 0
机构: Tan Tock Seng Hospital,Molecular Diagnostic Laboratory

Ee Shien Tan
论文数: 0 引用数: 0
h-index: 0
机构: Tan Tock Seng Hospital,Molecular Diagnostic Laboratory

James Soon Chuan Lim
论文数: 0 引用数: 0
h-index: 0
机构: Tan Tock Seng Hospital,Molecular Diagnostic Laboratory

Chia Wei Lim
论文数: 0 引用数: 0
h-index: 0
机构: Tan Tock Seng Hospital,Molecular Diagnostic Laboratory

Rinkoo Dalan
论文数: 0 引用数: 0
h-index: 0
机构: Tan Tock Seng Hospital,Molecular Diagnostic Laboratory
[22]
Clinical characteristics and gene mutation analysis of an adult patient with ETFDH-related multiple acyl-CoA dehydrogenase deficiency
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Wang, Chenyi
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Lv, Haihong
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Xu, Xia
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Ma, Yuping
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Li, Qian
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MOLECULAR MEDICINE REPORTS,
2020, 22 (05)
:4396-4402

Wang, Chenyi
论文数: 0 引用数: 0
h-index: 0
机构:
Lanzhou Univ, Dept Endocrinol, Hosp 1, 1 Donggang West Rd, Lanzhou 730000, Gansu, Peoples R China Lanzhou Univ, Dept Endocrinol, Hosp 1, 1 Donggang West Rd, Lanzhou 730000, Gansu, Peoples R China

Lv, Haihong
论文数: 0 引用数: 0
h-index: 0
机构:
Lanzhou Univ, Dept Endocrinol, Hosp 1, 1 Donggang West Rd, Lanzhou 730000, Gansu, Peoples R China Lanzhou Univ, Dept Endocrinol, Hosp 1, 1 Donggang West Rd, Lanzhou 730000, Gansu, Peoples R China

Xu, Xia
论文数: 0 引用数: 0
h-index: 0
机构:
Lanzhou Univ, Dept Endocrinol, Hosp 1, 1 Donggang West Rd, Lanzhou 730000, Gansu, Peoples R China Lanzhou Univ, Dept Endocrinol, Hosp 1, 1 Donggang West Rd, Lanzhou 730000, Gansu, Peoples R China

Ma, Yuping
论文数: 0 引用数: 0
h-index: 0
机构:
Lanzhou Univ, Dept Endocrinol, Hosp 1, 1 Donggang West Rd, Lanzhou 730000, Gansu, Peoples R China Lanzhou Univ, Dept Endocrinol, Hosp 1, 1 Donggang West Rd, Lanzhou 730000, Gansu, Peoples R China

Li, Qian
论文数: 0 引用数: 0
h-index: 0
机构:
Lanzhou Univ, Dept Endocrinol, Hosp 1, 1 Donggang West Rd, Lanzhou 730000, Gansu, Peoples R China Lanzhou Univ, Dept Endocrinol, Hosp 1, 1 Donggang West Rd, Lanzhou 730000, Gansu, Peoples R China
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Prediction of disease severity in multiple acyl-CoA dehydrogenase deficiency: A retrospective and laboratory cohort study
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van Rijt, Willemijn J.
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Ferdinandusse, Sacha
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Giannopoulos, Panagiotis
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Ruiter, Jos P. N.
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de Boer, Lonneke
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Bosch, Annet M.
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Huidekoper, Hidde H.
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Rubio-Gozalbo, M. Estela
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Visser, Gepke
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Williams, Monique
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Wanders, Ronald J. A.
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Derks, Terry G. J.
.
JOURNAL OF INHERITED METABOLIC DISEASE,
2019, 42 (05)
:878-889

van Rijt, Willemijn J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, Div Metab Dis, Groningen, Netherlands Univ Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, Div Metab Dis, Groningen, Netherlands

Ferdinandusse, Sacha
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Amsterdam, Amsterdam Univ Med Ctr, Dept Clin Chem, Lab Genet Metab Dis, Amsterdam, Netherlands Univ Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, Div Metab Dis, Groningen, Netherlands

论文数: 引用数:
h-index:
机构:

Ruiter, Jos P. N.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Amsterdam, Amsterdam Univ Med Ctr, Dept Clin Chem, Lab Genet Metab Dis, Amsterdam, Netherlands Univ Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, Div Metab Dis, Groningen, Netherlands

de Boer, Lonneke
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Dept Pediat, Med Ctr, Nijmegen, Netherlands Univ Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, Div Metab Dis, Groningen, Netherlands

Bosch, Annet M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Amsterdam, Amsterdam UMC, Div Metab Disorders, Dept Pediat, Amsterdam, Netherlands Univ Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, Div Metab Dis, Groningen, Netherlands

Huidekoper, Hidde H.
论文数: 0 引用数: 0
h-index: 0
机构:
Erasmus MC, Ctr Lysosomal & Metab Dis, Dept Pediat, Rotterdam, Netherlands Univ Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, Div Metab Dis, Groningen, Netherlands

Rubio-Gozalbo, M. Estela
论文数: 0 引用数: 0
h-index: 0
机构:
Maastricht Univ, Med Ctr, Dept Pediat & Clin Genet, Maastricht, Netherlands Univ Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, Div Metab Dis, Groningen, Netherlands

Visser, Gepke
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Ctr Utrecht, Wilhelmina Childrens Hosp, Dept Metab Dis, Utrecht, Netherlands Univ Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, Div Metab Dis, Groningen, Netherlands

Williams, Monique
论文数: 0 引用数: 0
h-index: 0
机构:
Erasmus MC, Ctr Lysosomal & Metab Dis, Dept Pediat, Rotterdam, Netherlands Univ Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, Div Metab Dis, Groningen, Netherlands

Wanders, Ronald J. A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Amsterdam, Amsterdam Univ Med Ctr, Dept Clin Chem, Lab Genet Metab Dis, Amsterdam, Netherlands Univ Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, Div Metab Dis, Groningen, Netherlands

Derks, Terry G. J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, Div Metab Dis, Groningen, Netherlands Univ Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, Div Metab Dis, Groningen, Netherlands
[24]
Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency
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Fan, Xin
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Xie, Bobo
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Zou, Jun
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Luo, Jingsi
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Qin, Zailong
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D'Gama, Alissa M.
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Shi, Jiahai
;
Yi, Shang
;
Yang, Qi
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Wang, Jin
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Luo, Shiyu
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Chen, Shaoke
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Agrawal, Pankaj B.
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Li, Qifei
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Shen, Yiping
.
MOLECULAR GENETICS AND METABOLISM REPORTS,
2018, 16
:15-19

Fan, Xin
论文数: 0 引用数: 0
h-index: 0
机构:
Maternal & Child Hlth Hosp Guangxi Zhuang Autonom, Genet & Metab Cent Lab, Nanning 530003, Peoples R China Maternal & Child Hlth Hosp Guangxi Zhuang Autonom, Genet & Metab Cent Lab, Nanning 530003, Peoples R China

Xie, Bobo
论文数: 0 引用数: 0
h-index: 0
机构:
Maternal & Child Hlth Hosp Guangxi Zhuang Autonom, Genet & Metab Cent Lab, Nanning 530003, Peoples R China Maternal & Child Hlth Hosp Guangxi Zhuang Autonom, Genet & Metab Cent Lab, Nanning 530003, Peoples R China

Zou, Jun
论文数: 0 引用数: 0
h-index: 0
机构:
Guangxi Med Univ, Affiliated Hosp 2, Dept Gastroenterol, Nanning 530000, Peoples R China Maternal & Child Hlth Hosp Guangxi Zhuang Autonom, Genet & Metab Cent Lab, Nanning 530003, Peoples R China

Luo, Jingsi
论文数: 0 引用数: 0
h-index: 0
机构:
Maternal & Child Hlth Hosp Guangxi Zhuang Autonom, Genet & Metab Cent Lab, Nanning 530003, Peoples R China Maternal & Child Hlth Hosp Guangxi Zhuang Autonom, Genet & Metab Cent Lab, Nanning 530003, Peoples R China

Qin, Zailong
论文数: 0 引用数: 0
h-index: 0
机构:
Maternal & Child Hlth Hosp Guangxi Zhuang Autonom, Genet & Metab Cent Lab, Nanning 530003, Peoples R China Maternal & Child Hlth Hosp Guangxi Zhuang Autonom, Genet & Metab Cent Lab, Nanning 530003, Peoples R China

D'Gama, Alissa M.
论文数: 0 引用数: 0
h-index: 0
机构:
Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA
Harvard Med Sch, Boston, MA 02115 USA
Boston Childrens Hosp, Manton Ctr Orphan Dis Res, Boston, MA 02115 USA Maternal & Child Hlth Hosp Guangxi Zhuang Autonom, Genet & Metab Cent Lab, Nanning 530003, Peoples R China

Shi, Jiahai
论文数: 0 引用数: 0
h-index: 0
机构:
City Univ Hong Kong, Dept Biomed Sci, Kowloon, Hong Kong, Peoples R China Maternal & Child Hlth Hosp Guangxi Zhuang Autonom, Genet & Metab Cent Lab, Nanning 530003, Peoples R China

Yi, Shang
论文数: 0 引用数: 0
h-index: 0
机构:
Maternal & Child Hlth Hosp Guangxi Zhuang Autonom, Genet & Metab Cent Lab, Nanning 530003, Peoples R China Maternal & Child Hlth Hosp Guangxi Zhuang Autonom, Genet & Metab Cent Lab, Nanning 530003, Peoples R China

Yang, Qi
论文数: 0 引用数: 0
h-index: 0
机构:
Maternal & Child Hlth Hosp Guangxi Zhuang Autonom, Genet & Metab Cent Lab, Nanning 530003, Peoples R China Maternal & Child Hlth Hosp Guangxi Zhuang Autonom, Genet & Metab Cent Lab, Nanning 530003, Peoples R China

Wang, Jin
论文数: 0 引用数: 0
h-index: 0
机构:
Maternal & Child Hlth Hosp Guangxi Zhuang Autonom, Genet & Metab Cent Lab, Nanning 530003, Peoples R China Maternal & Child Hlth Hosp Guangxi Zhuang Autonom, Genet & Metab Cent Lab, Nanning 530003, Peoples R China

Luo, Shiyu
论文数: 0 引用数: 0
h-index: 0
机构:
Maternal & Child Hlth Hosp Guangxi Zhuang Autonom, Genet & Metab Cent Lab, Nanning 530003, Peoples R China Maternal & Child Hlth Hosp Guangxi Zhuang Autonom, Genet & Metab Cent Lab, Nanning 530003, Peoples R China

Chen, Shaoke
论文数: 0 引用数: 0
h-index: 0
机构:
Maternal & Child Hlth Hosp Guangxi Zhuang Autonom, Genet & Metab Cent Lab, Nanning 530003, Peoples R China Maternal & Child Hlth Hosp Guangxi Zhuang Autonom, Genet & Metab Cent Lab, Nanning 530003, Peoples R China

Agrawal, Pankaj B.
论文数: 0 引用数: 0
h-index: 0
机构:
Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA
Harvard Med Sch, Boston, MA 02115 USA
Boston Childrens Hosp, Manton Ctr Orphan Dis Res, Boston, MA 02115 USA
Boston Childrens Hosp, Div Newborn Med, Boston, MA 02115 USA Maternal & Child Hlth Hosp Guangxi Zhuang Autonom, Genet & Metab Cent Lab, Nanning 530003, Peoples R China

Li, Qifei
论文数: 0 引用数: 0
h-index: 0
机构:
Maternal & Child Hlth Hosp Guangxi Zhuang Autonom, Genet & Metab Cent Lab, Nanning 530003, Peoples R China
Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA
Harvard Med Sch, Boston, MA 02115 USA
Boston Childrens Hosp, Manton Ctr Orphan Dis Res, Boston, MA 02115 USA
Boston Childrens Hosp, Div Newborn Med, Boston, MA 02115 USA Maternal & Child Hlth Hosp Guangxi Zhuang Autonom, Genet & Metab Cent Lab, Nanning 530003, Peoples R China

Shen, Yiping
论文数: 0 引用数: 0
h-index: 0
机构:
Maternal & Child Hlth Hosp Guangxi Zhuang Autonom, Genet & Metab Cent Lab, Nanning 530003, Peoples R China
Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA
Harvard Med Sch, Boston, MA 02115 USA Maternal & Child Hlth Hosp Guangxi Zhuang Autonom, Genet & Metab Cent Lab, Nanning 530003, Peoples R China
[25]
Severe sensory neuropathy In patients with adult-onset multiple acyl-CoA dehydrogenase deficiency
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Wang, Zhaoxia
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Hong, Daojun
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Zhang, Wei
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Li, Wurong
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Shi, Xin
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Zhao, Danhua
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Yang, Xu
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Lv, He
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Yuan, Yull
.
NEUROMUSCULAR DISORDERS,
2016, 26 (02)
:170-175

Wang, Zhaoxia
论文数: 0 引用数: 0
h-index: 0
机构:
Peking Univ, Hosp 1, Dept Neurol, Xishiku St 8, Beijing 100034, Peoples R China Peking Univ, Hosp 1, Dept Neurol, Xishiku St 8, Beijing 100034, Peoples R China

Hong, Daojun
论文数: 0 引用数: 0
h-index: 0
机构:
Nanchang Univ, Affiliated Hosp 1, Dept Neurol, Nanchang, Peoples R China Peking Univ, Hosp 1, Dept Neurol, Xishiku St 8, Beijing 100034, Peoples R China

Zhang, Wei
论文数: 0 引用数: 0
h-index: 0
机构:
Peking Univ, Hosp 1, Dept Neurol, Xishiku St 8, Beijing 100034, Peoples R China Peking Univ, Hosp 1, Dept Neurol, Xishiku St 8, Beijing 100034, Peoples R China

Li, Wurong
论文数: 0 引用数: 0
h-index: 0
机构:
Capital Med Univ, Beijing Ditan Hosp, Dept Neurol, Beijing, Peoples R China Peking Univ, Hosp 1, Dept Neurol, Xishiku St 8, Beijing 100034, Peoples R China

Shi, Xin
论文数: 0 引用数: 0
h-index: 0
机构:
Peking Univ, Hosp 1, Dept Neurol, Xishiku St 8, Beijing 100034, Peoples R China Peking Univ, Hosp 1, Dept Neurol, Xishiku St 8, Beijing 100034, Peoples R China

Zhao, Danhua
论文数: 0 引用数: 0
h-index: 0
机构:
Peking Univ, Hosp 1, Dept Neurol, Xishiku St 8, Beijing 100034, Peoples R China Peking Univ, Hosp 1, Dept Neurol, Xishiku St 8, Beijing 100034, Peoples R China

Yang, Xu
论文数: 0 引用数: 0
h-index: 0
机构:
China Aerosp Corp, Cent Hosp, Dept Neurol, Beijing, Peoples R China Peking Univ, Hosp 1, Dept Neurol, Xishiku St 8, Beijing 100034, Peoples R China

Lv, He
论文数: 0 引用数: 0
h-index: 0
机构:
Peking Univ, Hosp 1, Dept Neurol, Xishiku St 8, Beijing 100034, Peoples R China Peking Univ, Hosp 1, Dept Neurol, Xishiku St 8, Beijing 100034, Peoples R China

Yuan, Yull
论文数: 0 引用数: 0
h-index: 0
机构:
Peking Univ, Hosp 1, Dept Neurol, Xishiku St 8, Beijing 100034, Peoples R China Peking Univ, Hosp 1, Dept Neurol, Xishiku St 8, Beijing 100034, Peoples R China
[26]
Multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of late-onset treatable metabolic disease
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Behin, A.
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Acquaviva-Bourdain, C.
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Souvannanorath, S.
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Attarian, S.
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Bassez, G.
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Brivet, M.
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Fouilhoux, A.
;
Labarre-Villa, A.
;
Laquerriere, A.
;
Perard, L.
;
Kaminsky, P.
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Pouget, J.
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Rigal, O.
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Vanhulle, C.
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Eymard, B.
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Laforet, P.
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REVUE NEUROLOGIQUE,
2016, 172 (03)
:231-241

Behin, A.
论文数: 0 引用数: 0
h-index: 0
机构:
Grp Hosp Pitie Salpetriere, AP HP, Ctr Reference Pathol Neuromusculaire Paris Est, 47-83 Blvd Hop, F-75651 Paris 13, France Grp Hosp Pitie Salpetriere, AP HP, Ctr Reference Pathol Neuromusculaire Paris Est, 47-83 Blvd Hop, F-75651 Paris 13, France

Acquaviva-Bourdain, C.
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Civils Lyon, Ctr Reference Malad Hereditaires Metab, Ctr Biol & Pathol Est, Inserm,U820, F-69500 Bron, France Grp Hosp Pitie Salpetriere, AP HP, Ctr Reference Pathol Neuromusculaire Paris Est, 47-83 Blvd Hop, F-75651 Paris 13, France

Souvannanorath, S.
论文数: 0 引用数: 0
h-index: 0
机构:
Grp Hosp Pitie Salpetriere, AP HP, Ctr Reference Pathol Neuromusculaire Paris Est, 47-83 Blvd Hop, F-75651 Paris 13, France Grp Hosp Pitie Salpetriere, AP HP, Ctr Reference Pathol Neuromusculaire Paris Est, 47-83 Blvd Hop, F-75651 Paris 13, France

Streichenberger, N.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Claude Bernard Lyon I, Hosp Civils Lyon, Ctr Biol & Pathol Est, Serv Neuropathol, F-69500 Bron, France Grp Hosp Pitie Salpetriere, AP HP, Ctr Reference Pathol Neuromusculaire Paris Est, 47-83 Blvd Hop, F-75651 Paris 13, France

Attarian, S.
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Timone, AP HM, Ctr Reference Malad Neuromusculaires & SLA, F-13005 Marseille, France Grp Hosp Pitie Salpetriere, AP HP, Ctr Reference Pathol Neuromusculaire Paris Est, 47-83 Blvd Hop, F-75651 Paris 13, France

Bassez, G.
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Henri Mondor, AP HP, Ctr Reference Pathol Neuromusculaire Paris Ouest, Creteil, France Grp Hosp Pitie Salpetriere, AP HP, Ctr Reference Pathol Neuromusculaire Paris Est, 47-83 Blvd Hop, F-75651 Paris 13, France

Brivet, M.
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Robert Debre, AP HP, Ctr Reference Malad Hereditaires Metab, F-75020 Paris, France Grp Hosp Pitie Salpetriere, AP HP, Ctr Reference Pathol Neuromusculaire Paris Est, 47-83 Blvd Hop, F-75651 Paris 13, France

Fouilhoux, A.
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Lyon, Hop Femme Mere Enfant, Grp Hosp Est, Ctr Reference Lyonnais Malad Hereditaires Metab, F-69500 Bron, France Grp Hosp Pitie Salpetriere, AP HP, Ctr Reference Pathol Neuromusculaire Paris Est, 47-83 Blvd Hop, F-75651 Paris 13, France

Labarre-Villa, A.
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Grenoble, Ctr Reference Rhone Alpes Malad Neuromusculaires, F-38000 Grenoble, France Grp Hosp Pitie Salpetriere, AP HP, Ctr Reference Pathol Neuromusculaire Paris Est, 47-83 Blvd Hop, F-75651 Paris 13, France

Laquerriere, A.
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Rouen, Serv Anat & Cytol Pathol, F-76000 Rouen, France Grp Hosp Pitie Salpetriere, AP HP, Ctr Reference Pathol Neuromusculaire Paris Est, 47-83 Blvd Hop, F-75651 Paris 13, France

Perard, L.
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Edouard Herriot, Serv Med Interne, F-69437 Lyon 03, France Grp Hosp Pitie Salpetriere, AP HP, Ctr Reference Pathol Neuromusculaire Paris Est, 47-83 Blvd Hop, F-75651 Paris 13, France

Kaminsky, P.
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Nancy, Hop Brabois, Ctr Reference Malad Neuromusculaires, F-54500 Vandoeuvre Les Nancy, France Grp Hosp Pitie Salpetriere, AP HP, Ctr Reference Pathol Neuromusculaire Paris Est, 47-83 Blvd Hop, F-75651 Paris 13, France

Pouget, J.
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Timone, AP HM, Ctr Reference Malad Neuromusculaires & SLA, F-13005 Marseille, France Grp Hosp Pitie Salpetriere, AP HP, Ctr Reference Pathol Neuromusculaire Paris Est, 47-83 Blvd Hop, F-75651 Paris 13, France

Rigal, O.
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Robert Debre, AP HP, Ctr Reference Malad Hereditaires Metab, F-75020 Paris, France Grp Hosp Pitie Salpetriere, AP HP, Ctr Reference Pathol Neuromusculaire Paris Est, 47-83 Blvd Hop, F-75651 Paris 13, France

Vanhulle, C.
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Rouen, Ctr Competences Pathol Neuromusculaires Enfants N, F-76000 Rouen, France Grp Hosp Pitie Salpetriere, AP HP, Ctr Reference Pathol Neuromusculaire Paris Est, 47-83 Blvd Hop, F-75651 Paris 13, France

Eymard, B.
论文数: 0 引用数: 0
h-index: 0
机构:
Grp Hosp Pitie Salpetriere, AP HP, Ctr Reference Pathol Neuromusculaire Paris Est, 47-83 Blvd Hop, F-75651 Paris 13, France Grp Hosp Pitie Salpetriere, AP HP, Ctr Reference Pathol Neuromusculaire Paris Est, 47-83 Blvd Hop, F-75651 Paris 13, France

Vianey-Saban, C.
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Civils Lyon, Ctr Reference Malad Hereditaires Metab, Ctr Biol & Pathol Est, Inserm,U820, F-69500 Bron, France Grp Hosp Pitie Salpetriere, AP HP, Ctr Reference Pathol Neuromusculaire Paris Est, 47-83 Blvd Hop, F-75651 Paris 13, France

Laforet, P.
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Bicetre, AP HP, Serv Biochim, F-94270 Le Kremlin Bicetre, France Grp Hosp Pitie Salpetriere, AP HP, Ctr Reference Pathol Neuromusculaire Paris Est, 47-83 Blvd Hop, F-75651 Paris 13, France
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van der Westhuizena, Francois H.
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Smuts, Izelle
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Honey, Engela
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Schoonen, Maryke
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Jonck, Lindi-Maryn
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Dercksen, Marli
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JOURNAL OF THE NEUROLOGICAL SCIENCES,
2018, 384
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van der Westhuizena, Francois H.
论文数: 0 引用数: 0
h-index: 0
机构:
North West Univ, Human Metabol, Private Bag 10 6001, ZA-2520 Potchefstroom, South Africa North West Univ, Human Metabol, Private Bag 10 6001, ZA-2520 Potchefstroom, South Africa

Smuts, Izelle
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Pretoria, Steve Biko Acad Hosp, Dept Paediat, Pretoria, South Africa North West Univ, Human Metabol, Private Bag 10 6001, ZA-2520 Potchefstroom, South Africa

Honey, Engela
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Pretoria, Dept Genet, Pretoria, South Africa North West Univ, Human Metabol, Private Bag 10 6001, ZA-2520 Potchefstroom, South Africa

Louw, Roan
论文数: 0 引用数: 0
h-index: 0
机构:
North West Univ, Human Metabol, Private Bag 10 6001, ZA-2520 Potchefstroom, South Africa North West Univ, Human Metabol, Private Bag 10 6001, ZA-2520 Potchefstroom, South Africa

论文数: 引用数:
h-index:
机构:

Jonck, Lindi-Maryn
论文数: 0 引用数: 0
h-index: 0
机构:
North West Univ, Human Metabol, Private Bag 10 6001, ZA-2520 Potchefstroom, South Africa North West Univ, Human Metabol, Private Bag 10 6001, ZA-2520 Potchefstroom, South Africa

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Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency: A frequent condition in the southern Chinese population
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Liang, Wen-Chen
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Nishino, Ichizo
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NEUROLOGY AND CLINICAL NEUROSCIENCE,
2013, 1 (05)
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Liang, Wen-Chen
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Kaohsiung Med Univ Hosp, Dept Pediat, Kaohsiung, Taiwan
Kaohsiung Med Univ, Coll Med, Sch Med, Dept Pediat, Kaohsiung, Taiwan Kaohsiung Med Univ Hosp, Dept Pediat, Kaohsiung, Taiwan

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Identification of the human mitochondrial FAD transporter and its potential role in multiple acyl-CoA dehydrogenase deficiency
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Spaan, AN
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机构: Univ Amsterdam, Acad Med Ctr, Dept Clin Chem, Lab Genet Metab Dis, NL-1105 AZ Amsterdam, Netherlands

IJlst, L
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机构: Univ Amsterdam, Acad Med Ctr, Dept Clin Chem, Lab Genet Metab Dis, NL-1105 AZ Amsterdam, Netherlands

van Roermund, CWT
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机构: Univ Amsterdam, Acad Med Ctr, Dept Clin Chem, Lab Genet Metab Dis, NL-1105 AZ Amsterdam, Netherlands

Wijburg, FA
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机构: Univ Amsterdam, Acad Med Ctr, Dept Clin Chem, Lab Genet Metab Dis, NL-1105 AZ Amsterdam, Netherlands

Wanders, RJA
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机构: Univ Amsterdam, Acad Med Ctr, Dept Clin Chem, Lab Genet Metab Dis, NL-1105 AZ Amsterdam, Netherlands

Waterham, HR
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Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal
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Ventura, F. V.
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机构:
Univ Lisbon, Fac Farm, Metab & Genet Grp, Res Inst Med & Pharmaceut Sci,iMed UL, P-1649003 Lisbon, Portugal
Univ Lisbon, Fac Pharm, Dept Biochem & Human Biol, P-1649003 Lisbon, Portugal Univ Lisbon, Fac Farm, Metab & Genet Grp, Res Inst Med & Pharmaceut Sci,iMed UL, P-1649003 Lisbon, Portugal

Leandro, P.
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Univ Lisbon, Fac Farm, Metab & Genet Grp, Res Inst Med & Pharmaceut Sci,iMed UL, P-1649003 Lisbon, Portugal
Univ Lisbon, Fac Pharm, Dept Biochem & Human Biol, P-1649003 Lisbon, Portugal Univ Lisbon, Fac Farm, Metab & Genet Grp, Res Inst Med & Pharmaceut Sci,iMed UL, P-1649003 Lisbon, Portugal

Luz, A.
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Univ Lisbon, Fac Farm, Metab & Genet Grp, Res Inst Med & Pharmaceut Sci,iMed UL, P-1649003 Lisbon, Portugal
Univ Lisbon, Fac Pharm, Dept Biochem & Human Biol, P-1649003 Lisbon, Portugal Univ Lisbon, Fac Farm, Metab & Genet Grp, Res Inst Med & Pharmaceut Sci,iMed UL, P-1649003 Lisbon, Portugal

Rivera, I. A.
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Univ Lisbon, Fac Farm, Metab & Genet Grp, Res Inst Med & Pharmaceut Sci,iMed UL, P-1649003 Lisbon, Portugal
Univ Lisbon, Fac Pharm, Dept Biochem & Human Biol, P-1649003 Lisbon, Portugal Univ Lisbon, Fac Farm, Metab & Genet Grp, Res Inst Med & Pharmaceut Sci,iMed UL, P-1649003 Lisbon, Portugal

Silva, M. F. B.
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Univ Lisbon, Fac Farm, Metab & Genet Grp, Res Inst Med & Pharmaceut Sci,iMed UL, P-1649003 Lisbon, Portugal
Univ Lisbon, Fac Pharm, Dept Biochem & Human Biol, P-1649003 Lisbon, Portugal Univ Lisbon, Fac Farm, Metab & Genet Grp, Res Inst Med & Pharmaceut Sci,iMed UL, P-1649003 Lisbon, Portugal

Ramos, R.
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Univ Lisbon, Fac Farm, Metab & Genet Grp, Res Inst Med & Pharmaceut Sci,iMed UL, P-1649003 Lisbon, Portugal
Univ Lisbon, Fac Pharm, Dept Biochem & Human Biol, P-1649003 Lisbon, Portugal Univ Lisbon, Fac Farm, Metab & Genet Grp, Res Inst Med & Pharmaceut Sci,iMed UL, P-1649003 Lisbon, Portugal

Rocha, H.
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机构:
Natl Inst Hlth Dr Ricardo Jorge, Dept Genet, Metab & Genet Unit, Oporto, Portugal Univ Lisbon, Fac Farm, Metab & Genet Grp, Res Inst Med & Pharmaceut Sci,iMed UL, P-1649003 Lisbon, Portugal

Lopes, A.
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Natl Inst Hlth Dr Ricardo Jorge, Dept Genet, Metab & Genet Unit, Oporto, Portugal Univ Lisbon, Fac Farm, Metab & Genet Grp, Res Inst Med & Pharmaceut Sci,iMed UL, P-1649003 Lisbon, Portugal

Fonseca, H.
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Natl Inst Hlth Dr Ricardo Jorge, Dept Genet, Metab & Genet Unit, Oporto, Portugal Univ Lisbon, Fac Farm, Metab & Genet Grp, Res Inst Med & Pharmaceut Sci,iMed UL, P-1649003 Lisbon, Portugal

Gaspar, A.
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Hosp Santa Maria, Lisbon North Hosp Ctr, Dept Pediat, Lisbon, Portugal Univ Lisbon, Fac Farm, Metab & Genet Grp, Res Inst Med & Pharmaceut Sci,iMed UL, P-1649003 Lisbon, Portugal

Diogo, L.
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Childrens Hosp Coimbra, Metab Disorders Unit, Coimbra, Portugal Univ Lisbon, Fac Farm, Metab & Genet Grp, Res Inst Med & Pharmaceut Sci,iMed UL, P-1649003 Lisbon, Portugal

Martins, E.
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Childrens Hosp Maria Pia, Metab Dis Unit, Oporto, Portugal Univ Lisbon, Fac Farm, Metab & Genet Grp, Res Inst Med & Pharmaceut Sci,iMed UL, P-1649003 Lisbon, Portugal

Leao-Teles, E.
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S Joao Hosp Ctr, Metab Dis Pediat Unit, Oporto, Portugal Univ Lisbon, Fac Farm, Metab & Genet Grp, Res Inst Med & Pharmaceut Sci,iMed UL, P-1649003 Lisbon, Portugal

Vilarinho, L.
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Natl Inst Hlth Dr Ricardo Jorge, Dept Genet, Metab & Genet Unit, Oporto, Portugal Univ Lisbon, Fac Farm, Metab & Genet Grp, Res Inst Med & Pharmaceut Sci,iMed UL, P-1649003 Lisbon, Portugal

Tavares de Almeida, I.
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Univ Lisbon, Fac Farm, Metab & Genet Grp, Res Inst Med & Pharmaceut Sci,iMed UL, P-1649003 Lisbon, Portugal Univ Lisbon, Fac Farm, Metab & Genet Grp, Res Inst Med & Pharmaceut Sci,iMed UL, P-1649003 Lisbon, Portugal