E-LIB Suche - Ergebnisse für: Krasnewich, Donna

1

A Participatory Framework for Plain Language Clinical Manag..:

Francisco, Rita ; Alves, Susana ; Gomes, Catarina...
International Journal of Environmental Research and Public Health. 19 (2022) 20 - p. 13506 , 2022

Link: https://doi.org/10.3390/..

2

International consensus guidelines for phosphoglucomutase 1..:

Altassan, Ruqaiah ; Radenkovic, Silvia ; Edmondson, Andrew C....
Journal of Inherited Metabolic Disease. 44 (2020) 1 - p. 148-163 , 2020

Link: https://doi.org/10.1002/..

3

International clinical guidelines for the management of pho..:

Altassan, Ruqaiah ; Péanne, Romain ; Jaeken, Jaak...
Journal of Inherited Metabolic Disease. 42 (2019) 1 - p. 5-28 , 2019

Link: https://doi.org/10.1002/..

4

Prospective phenotyping of NGLY1-CDDG, the first congenital..:

Lam, Christina ; Ferreira, Carlos ; Krasnewich, Donna...
Genetics in Medicine. 19 (2017) 2 - p. 160-168 , 2017

Link: https://doi.org/10.1038/..

5

The dbGaP data browser: a new tool for browsing dbGaP contr..:

Wong, Kira M. ; Langlais, Kristofor ; Tobias, Geoffrey S....
Nucleic Acids Research. 45 (2016) D1 - p. D819-D826 , 2016

Link: https://doi.org/10.1093/..

6

Clarifying the mitochondrial phenotype of NGLY1 deficiency:

Latham, Lea ; Lam, Christina ; Ferreira, Carlos...
Mitochondrion. 24 (2015) - p. S43-S44 , 2015

Link: https://doi.org/10.1016/..

7

Intravenous immune globulin in hereditary inclusion body my..:

Sparks, Susan ; Rakocevic, Goran ; Joe, Galen...
BMC Neurology. 7 (2007) 1 - p. , 2007

Link: https://doi.org/10.1186/..

8

Congenital disorder of glycosylation-X: clinicopathologic s..:

Agarwal, Beamon ; Ahmed, Atif ; Rushing, Elisabeth J....
Human Pathology. 38 (2007) 11 - p. 1714-1719 , 2007

Link: https://doi.org/10.1016/..

9

CDG‐Id in two siblings with partially different phenotypes:

Kranz, Christian ; Sun, Liangwu ; Eklund, Erik A....
American Journal of Medical Genetics Part A. 143A (2007) 13 - p. 1414-1420 , 2007

Link: https://doi.org/10.1002/..

10

Clinical features in adults with congenital disorders of gl..:

Krasnewich, Donna ; O'Brien, Kevin ; Sparks, Susan
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 145C (2007) 3 - p. 302-306 , 2007

Link: https://doi.org/10.1002/..

11

Quantitative dysmorphology assessment in Fabry disease:

Ries, Markus ; Moore, David F. ; Robinson, Chevalia J....
Genetics in Medicine. 8 (2006) 2 - p. 96-101 , 2006

Link: https://doi.org/10.1097/..

12

Hypoglycosylation of α-dystroglycan in patients with heredi..:

Huizing, Marjan ; Rakocevic, Goran ; Sparks, Susan E...
Molecular Genetics and Metabolism. 81 (2004) 3 - p. 196-202 , 2004

Link: https://doi.org/10.1016/..

13

Long-term follow-up of well-treated nephropathic cystinosis..:

Kleta, Robert ; Bernardini, Isa ; Ueda, Masako...
The Journal of Pediatrics. 145 (2004) 4 - p. 555-560 , 2004

Link: https://doi.org/10.1016/..

14

Clinical, biochemical, and molecular diagnosis of a free si..:

Kleta, Robert ; Morse, Richard P ; Orvisky, Eduard...
Molecular Genetics and Metabolism. 82 (2004) 2 - p. 137-143 , 2004

Link: https://doi.org/10.1016/..

15

Sialic acid storage disease of the Salla phenotype in Ameri..:

Martin, Rick A. ; Slaugh, Rachel ; Natowicz, Marvin...
American Journal of Medical Genetics Part A. 120A (2003) 1 - p. 23-27 , 2003

Link: https://doi.org/10.1002/..