E-LIB Suche - Ergebnisse für: Lubout, Charlotte

1

Consensus guidelines for the diagnosis and management of is..:

Schwahn, Bernd C. ; van Spronsen, Francjan ; Misko, Albert...
Journal of Inherited Metabolic Disease. 47 (2024) 4 - p. 598-623 , 2024

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

2

Hereditary folate malabsorption due to a mutation in the ex..:

Aluri, Srinivas ; Zhao, Rongbao ; Lubout, Charlotte...
Blood Advances. 2 (2018) 1 - p. 61-68 , 2018

Link: https://doi.org/10.1182/..

3

Correction: Ketogenic diet as a glycine lowering therapy in..:

Shelkowitz, Emily ; Saneto, Russell P. ; Al-Hertani, Walla...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

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

4

A False-Negative Newborn Screen for Tyrosinemia Type 1—Need..:

Dijkstra, Allysa M. ; Evers-van Vliet, Kimber ; Heiner-Fokkema, M. Rebecca...
International Journal of Neonatal Screening. 9 (2023) 4 - p. 66 , 2023

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

5

A Delphi Survey Study to Formulate Statements on the Treata..:

Veldman, Abigail ; Kiewiet, M. B. Gea ; Westra, Dineke...
International Journal of Neonatal Screening. 9 (2023) 4 - p. 56 , 2023

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

6

Expanding the clinical spectrum of primary coenzyme Q10 def..:

Leeuwen, Lisette ; Lubout, Charlotte M. A. ; Nijenhuis, Hessel P....
Clinical Genetics. 102 (2022) 4 - p. 350-351 , 2022

Link: https://doi.org/10.1111/..

7

THE IMPACT OF GLYCINE LOWERING THERAPIES IN NONKETOTIC HYPE..:

Shelkowitz, Emily ; Saneto, Russell P. ; Al-Hertani, Walla...
Molecular Genetics and Metabolism. 135 (2022) 4 - p. 299 , 2022

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

8

Dietary treatment in Dutch children with phenylketonuria: A..:

Haitjema, Sietske ; Lubout, Charlotte M.A. ; Abeln, David...
Nutrition. 97 (2022) - p. 111576 , 2022

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

9

Ketogenic diet as a glycine lowering therapy in nonketotic ..:

Shelkowitz, Emily ; Saneto, Russell P. ; Al-Hertani, Walla...
Orphanet Journal of Rare Diseases. 17 (2022) 1 - p. , 2022

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

10

Disorders of Carbohydrate Absorption, Transmembrane Transpo..:

, In: Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases,

Derks, Terry G. J. ; Lubout, Charlotte M. A. ; Woidy, Mathias. - p. 649-700 , 2022

Link: https://doi.org/10.1007/..

11

Communication of an Abnormal Metabolic New-Born Screening R..:

Haitjema, Sietske ; Lubout, Charlotte M. A. ; Zijlstra, Justine H. M...
Nutrients. 14 (2022) 19 - p. 3961 , 2022

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

12

A generic emergency protocol for patients with inborn error..:

Rossi, Alessandro ; Hoogeveen, Irene J. ; Lubout, Charlotte M. A....
Journal of Inherited Metabolic Disease. 44 (2021) 5 - p. 1124-1135 , 2021

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

13

A retrospective study of eating and psychosocial problems i..:

Venema, Annieke ; Peeks, Fabian ; de Bruijn‐van der Veen, Marlies...
JIMD Reports. 63 (2021) 1 - p. 29-40 , 2021

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

14

Bone mineral density is within normal range in most adult p..:

Lubout, Charlotte M. A. ; Arrieta Blanco, Francisco ; Bartosiewicz, Katarzyna...
Journal of Inherited Metabolic Disease. 43 (2020) 2 - p. 251-258 , 2020

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

15

Successful Treatment of Hereditary Folate Malabsorption Wit..:

Lubout, Charlotte M.A. ; Goorden, Susanna M.I. ; van den Hurk, Karin...
Pediatric Neurology. 102 (2020) - p. 62-66 , 2020

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