E-LIB Suche - Ergebnisse für: Lichter-Konecki, Uta

1

Late diagnosis of the X-linked MCT8 deficiency (Allan–Hernd..:

Sriram, Swetha ; Shahid, Nabiha ; Mysliwiec D, Diana...
Journal of Pediatric Endocrinology and Metabolism. 37 (2024) 4 - p. 371-374 , 2024

Link: https://doi.org/10.1515/..

2

P007: PP4 criteria specifications for proximal urea cycle d..:

Simpson, Kara ; Mew, Nicholas Ah ; Caldovic, Ljubica...
Genetics in Medicine Open. 2 (2024) - p. 100884 , 2024

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

3

P018: Phenylketonuria families and researchers evaluating e..:

Arnold, Georgianne ; Christ, Shawn ; Lichter-Konecki, Uta...
Genetics in Medicine Open. 2 (2024) - p. 100895 , 2024

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

4

Update from the NIH rare disease consortium for hyperphenyl..:

Arnold, Georgianne ; Christ, Shawn ; Lichter-Konecki, Uta...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108205 , 2024

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

5

Health-related quality of life in a systematically assessed..:

Murali, Chaya N. ; Barber, John R. ; McCarter, Robert...
Molecular Genetics and Metabolism. 140 (2023) 3 - p. 107696 , 2023

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

6

Relationship between longitudinal changes in neuropsycholog..:

Lichter-Konecki, Uta ; Sanz, Jacqueline H. ; Ah Mew, Nicholas...
Pediatric Research. 94 (2023) 6 - p. 2005-2015 , 2023

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

7

CURATION OF SEQUENCE VARIANTS IN UREA CYCLE GENES:

Simpson, Kara ; Mew, Nicholas Ah. ; Caldovic, Ljubica...
Molecular Genetics and Metabolism. 138 (2023) 3 - p. 107488 , 2023

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

8

Newborn Screening for X-Linked Adrenoleukodystrophy: Review..:

Priestley, Jessica R. C. ; Adang, Laura A. ; Drewes Williams, Sarah...
International Journal of Neonatal Screening. 8 (2022) 2 - p. 24 , 2022

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

9

Multisite Retrospective Review of Outcomes in Renal Replace..:

Ames, Elizabeth G. ; Powell, Corey ; Engen, Rachel M....
The Journal of Pediatrics. 246 (2022) - p. 116-122.e1 , 2022

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

10

MLIP causes recessive myopathy with rhabdomyolysis, myalgia..:

Lopes Abath Neto, Osorio ; Medne, Livija ; Donkervoort, Sandra...
Brain. 144 (2021) 9 - p. 2722-2731 , 2021

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

11

Glycerol phenylbutyrate efficacy and safety from an open la..:

Longo, Nicola ; Diaz, George A. ; Lichter-Konecki, Uta...
Molecular Genetics and Metabolism. 132 (2021) 1 - p. 19-26 , 2021

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

12

Opportunities for fellowship education: the first year of t..:

Baker, Peter ; Ables, Holly ; Bedoyan, Jirair...
Molecular Genetics and Metabolism. 132 (2021) - p. S290-S291 , 2021

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

13

Correction to: Neutropenia and intellectual disability are ..:

Wortmann, Saskia B. ; Ziętkiewicz, Szymon ; Guerrero-Castillo, Sergio...
Genetics in Medicine. 23 (2021) 9 - p. 1789 , 2021

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

14

Neutropenia and intellectual disability are hallmarks of bi..:

Wortmann, Saskia B. ; Ziętkiewicz, Szymon ; Guerrero-Castillo, Sergio...
Genetics in Medicine. 23 (2021) 9 - p. 1705-1714 , 2021

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

15

Refining ClinGen loss of function variant recommendations f..:

Groopman, Emily ; Weaver, Meredith ; Zastrow, Diane...
Molecular Genetics and Metabolism. 132 (2021) - p. S231 , 2021

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