E-LIB Suche - Ergebnisse für: Staretz‐Chacham, Orna

1

Hyperinsulinism/hyperammonemia syndrome caused by biallelic..:

Safran, Amit ; Proskorovski‐Ohayon, Regina ; Eskin‐Schwartz, Marina...
Journal of Inherited Metabolic Disease. 46 (2023) 4 - p. 744-755 , 2023

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

2

Addition of galactose‐1‐phosphate measurement enhances newb..:

Daas, Suha ; Abu Salah, Nasser ; Anikster, Yair...
Journal of Inherited Metabolic Disease. 46 (2022) 2 - p. 232-242 , 2022

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

3

Deep intronic variant in the ARSB gene as the genetic cause..:

Marek‐Yagel, Dina ; Eliyahu, Aviva ; Veber, Alvit...
American Journal of Medical Genetics Part A. 185 (2021) 12 - p. 3804-3809 , 2021

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

4

A homozygous missense variant of SUMF1 in the Bedouin popul..:

Staretz‐Chacham, Orna ; Schlotawa, Lars ; Wormser, Ohad...
Molecular Genetics & Genomic Medicine. 8 (2020) 9 - p. , 2020

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

5

B4GALT1‐congenital disorders of glycosylation: Expansion of..:

Staretz‐Chacham, Orna ; Noyman, Iris ; Wormser, Ohad...
Clinical Genetics. 97 (2020) 6 - p. 920-926 , 2020

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

6

Natural history of multiple sulfatase deficiency: Retrospec..:

Adang, Laura A. ; Schlotawa, Lars ; Groeschel, Samuel...
Journal of Inherited Metabolic Disease. 43 (2020) 6 - p. 1298-1309 , 2020

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

7

The role of orotic acid measurement in routine newborn scre..:

Staretz‐Chacham, Orna ; Daas, Suha ; Ulanovsky, Igor...
Journal of Inherited Metabolic Disease. 44 (2020) 3 - p. 606-617 , 2020

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

8

The effect of vitamin D administration on vitamin D status ..:

Golan‐Tripto, Inbal ; Bistritzer, Jacob ; Loewenthal, Neta...
Pediatric Pulmonology. 55 (2020) 11 - p. 3080-3087 , 2020

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

9

Novel homozygous ENPP1 mutation causes generalized arterial..:

Staretz‐Chacham, Orna ; Shukrun, Rachel ; Barel, Ortal...
American Journal of Medical Genetics Part A. 179 (2019) 10 - p. 2112-2118 , 2019

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

10

TMEM70 deficiency: Novel mutation and hypercitrullinemia du..:

Staretz‐Chacham, Orna ; Wormser, Ohad ; Manor, Esther..
American Journal of Medical Genetics Part A. 179 (2019) 7 - p. 1293-1298 , 2019

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

11

A novel homozygous SLC25A1 mutation with impaired mitochond..:

Cohen, Idan ; Staretz‐Chacham, Orna ; Wormser, Ohad...
American Journal of Medical Genetics Part A. 176 (2017) 2 - p. 330-336 , 2017

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

12

Psychiatric and behavioral manifestations of lysosomal stor..:

Staretz‐Chacham, Orna ; Choi, Jae Hyuk ; Wakabayashi, Kazuyo..
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 153B (2010) 7 - p. 1253-1265 , 2010

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

13

Long-term administration of intravenous Trappsol® Cyclo™ (H..:

Sharma, Reena ; Hastings, Caroline ; Staretz-Chacham, Orna...
Molecular Genetics and Metabolism Reports. 36 (2023) - p. 100988 , 2023

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

14

Hereditary orotic aciduria identified by newborn screening:

Staretz-Chacham, Orna ; Damseh, Nadirah S. ; Daas, Suha...
Frontiers in Genetics. 14 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

15

Elevated Alpha-Fetoprotein in Infantile-Onset Niemann-Pick ..:

Kraus, Dror ; Abdelrahim, Huda ; Waisbourd-Zinman, Orith...
Children. 9 (2022) 4 - p. 545 , 2022

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