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Ng, Bobby G.
1337  Ergebnisse:
Personensuche X
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1

Clinical and biochemical footprints of congenital disorders..:

Ng, Bobby G. ; Freeze, Hudson H. ; Himmelreich, Nastassja..
Molecular Genetics and Metabolism.  142 (2024)  1 - p. 108476 , 2024
Link: https://doi.org/10.1016/..
 
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2

ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Upd..:

Shah, Rameen ; Eklund, Erik A. ; Radenkovic, Silvia...
Molecular Genetics and Metabolism.  142 (2024)  2 - p. 108472 , 2024
Link: https://doi.org/10.1016/..
 
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3

Fractionated plasma N‐glycan profiling of novel cohort of A..:

Alharbi, Hana ; Daniel, Earnest James Paul ; Thies, Jenny...
Journal of Inherited Metabolic Disease.  46 (2023)  2 - p. 300-312 , 2023
Link: https://doi.org/10.1002/..
 
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4

Beyond genetics: Deciphering the impact of missense variant..:

del Caño‐Ochoa, Francisco ; Ng, Bobby G. ; Rubio‐del‐Campo, Antonio...
Journal of Inherited Metabolic Disease.  46 (2023)  6 - p. 1170-1185 , 2023
Link: https://doi.org/10.1002/..
 
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5

Elevated oxysterol and N‐palmitoyl‐O‐phosphocholineserine l..:

Dang Do, An N. ; Chang, Irene J. ; Jiang, Xutian...
Journal of Inherited Metabolic Disease.  46 (2023)  2 - p. 326-334 , 2023
Link: https://doi.org/10.1002/..
 
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6

Biallelic missense variants in COG3 cause a congenital diso..:

Duan, Ruizhi ; Marafi, Dana ; Xia, Zhi‐Jie...
Journal of Inherited Metabolic Disease.  46 (2023)  6 - p. 1195-1205 , 2023
Link: https://doi.org/10.1002/..
 
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7

GLUT1 is a highly efficient L-fucose transporter:

Ng, Bobby G. ; Sosicka, Paulina ; Xia, Zhijie.
Journal of Biological Chemistry.  299 (2023)  1 - p. 102738 , 2023
Link: https://doi.org/10.1016/..
 
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8

COG4 mutation in Saul-Wilson syndrome selectively affects s..:

Xia, Zhi-Jie ; Mahajan, Sonal ; Paul Daniel, Earnest James...
Frontiers in Cell and Developmental Biology.  10 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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9

The SwedishCOG6‐CDGexperience and a comprehensive literatur..:

Xia, Zhi‐Jie ; Ng, Bobby G. ; Jennions, Elizabeth...
JIMD Reports.  64 (2022)  1 - p. 79-89 , 2022
Link: https://doi.org/10.1002/..
 
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10

DDOST‐CDG: Clinical and molecular characterization of a thi..:

Elsharkawi, Ibrahim ; Wongkittichote, Parith ; Daniel, Earnest James Paul...
Journal of Inherited Metabolic Disease.  46 (2022)  1 - p. 92-100 , 2022
Link: https://doi.org/10.1002/..
 
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11

CAMLG-CDG: a novel congenital disorder of glycosylation lin..:

Wilson, Matthew P ; Durin, Zoé ; Unal, Özlem...
Human Molecular Genetics.  31 (2022)  15 - p. 2571-2581 , 2022
Link: https://doi.org/10.1093/..
 
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12

Uridine monophosphate (UMP)-responsive developmental and ep..:

Al-Otaibi, Ali ; AlAyed, Alaa ; Al Madhi, Asma...
Molecular Genetics and Metabolism Reports.  30 (2022)  - p. 100835 , 2022
Link: https://doi.org/10.1016/..
 
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13

A recurrent homozygous missense DPM3 variant leads to muscl..:

Nagy, Sara ; Lau, Tracy ; Alavi, Shahryar...
Clinical Genetics.  102 (2022)  6 - p. 530-536 , 2022
Link: https://doi.org/10.1111/..
 
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14

ALG8‐CDG: Molecular and phenotypic expansion suggests clini..:

Albokhari, Daniah ; Ng, Bobby G. ; Guberinic, Alis...
Journal of Inherited Metabolic Disease.  45 (2022)  5 - p. 969-980 , 2022
Link: https://doi.org/10.1002/..
 
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15

SLC37A4-CDG: New biochemical insights for an emerging conge..:

Raynor, Alexandre ; Haouari, Walid ; Ng, Bobby G....
Clinica Chimica Acta.  521 (2021)  - p. 104-106 , 2021
Link: https://doi.org/10.1016/..
 
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