E-LIB Suche - Ergebnisse für: Andersson, Hans C.

1

Outcomes in 14 live births resulting from Pegvaliase-treate..:

Bier, Caide ; Dickey, Kaelin ; Bibb, Brittan...
Molecular Genetics and Metabolism. 141 (2024) 3 - p. 108152 , 2024

2

Frontiers in congenital disorders of glycosylation consorti..:

Lam, Christina ; Scaglia, Fernando ; Berry, Gerard T....
Molecular Genetics and Metabolism. 142 (2024) 4 - p. 108509 , 2024

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

3

Maximal dietary responsiveness after tetrahydrobiopterin (B..:

Upadia, Jariya ; Crivelly, Kea ; Noh, Grace...
Molecular Genetics and Metabolism Reports. 38 (2024) - p. 101050 , 2024

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

4

Biochemical and molecular characteristics among infants wit..:

Upadia, Jariya ; Noh, Grace ; Lefante, John J..
Molecular Genetics and Metabolism Reports. 37 (2023) - p. 101002 , 2023

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

5

Genotype–phenotype correlation in IARS2‐related diseases: A..:

Upadia, Jariya ; Li, Yuwen ; Walano, Nicolette...
Clinical Case Reports. 10 (2022) 2 - p. , 2022

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

6

Use of pegvaliase in the management of phenylketonuria: Cas..:

Adams, Darius ; Andersson, Hans C. ; Bausell, Heather...
Molecular Genetics and Metabolism Reports. 28 (2021) - p. 100790 , 2021

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

7

HSD10 disease in a female: A case report and review of lite..:

Upadia, Jariya ; Walano, Nicolette ; Noh, Grace S....
JIMD Reports. 62 (2021) 1 - p. 35-43 , 2021

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

8

The 2019 US medical genetics workforce: a focus on clinical..:

Jenkins, Brittany D. ; Fischer, Catherine G. ; Polito, Curt A....
Genetics in Medicine. 23 (2021) 8 - p. 1458-1464 , 2021

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

9

Algorithm-driven electronic health record notification enha..:

Andersson, Hans C.
The Journal of Pediatrics. 216 (2020) - p. 1-3 , 2020

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

10

Mo1729 – Feasibility of Utilizing Premm Score for Lynch Syn..:

Adviento, Brigid ; Sarkisian, Alex M. ; Walano, Nikki..
Gastroenterology. 156 (2019) 6 - p. S-823-S-824 , 2019

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

11

Stippled Chondral Calcifications of the Patella in Zellwege..:

Rife, Eileen ; Dunbar, Alston E. ; Nelson, Stephen L..
The Journal of Pediatrics. 192 (2018) - p. 265 , 2018

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

12

Dietary guidelines for inborn errors of metabolism:

Andersson, Hans C.
The Journal of Pediatrics. 188 (2017) - p. 1-2 , 2017

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

13

Transformation in pretreatment manifestations of Gaucher di..:

Mistry, Pramod K. ; Batista, Julie L. ; Andersson, Hans C....
American Journal of Hematology. 92 (2017) 9 - p. 929-939 , 2017

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

14

Newborn Screening for Spinal Muscular Atrophy and Lysosomal..:

Andersson, Hans C.
The Journal of Pediatrics. 190 (2017) - p. 9-10 , 2017

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

15

Transformation in pre-treatment presentations of Gaucher di..:

Weinreb, Neal J ; Batista, Julie ; Andersson, Hans C...
Molecular Genetics and Metabolism. 120 (2017) 1-2 - p. S139 , 2017

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