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Spiegel, Ronen
153  results:
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1

Transport®NPC: open phase 3 global trial of intravenous hyd..:

Hastings, Caroline A. ; Goker-Alpan, Ozlem ; Pena, Loren...
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 107875 , 2024
Link: https://doi.org/10.1016/..
 
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2

Empagliflozin for treating neutropenia and neutrophil dysfu..:

Grünert, Sarah C. ; Gautschi, Matthias ; Baker, Joshua...
Molecular Genetics and Metabolism.  142 (2024)  2 - p. 108486 , 2024
Link: https://doi.org/10.1016/..
 
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3

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

Schwahn, Bernd C. ; van Spronsen, Francjan ; Misko, Albert...
Journal of Inherited Metabolic Disease.  , 2024
Link: https://doi.org/10.1002/..
 
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4

Primary CoQ10 deficiency: treatable heterogeneous group of ..:

Spiegel, Ronen
European Journal of Human Genetics.  , 2024
Link: https://doi.org/10.1038/..
 
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5

Study of an FBXO7 patient mutation reveals Fbxo7 and PI31 c..:

Al Rawi, Sara ; Simpson, Lorna ; Agnarsdóttir, Guðrún...
The FEBS Journal.  291 (2024)  12 - p. 2565-2589 , 2024
Link: https://doi.org/10.1111/..
 
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6

Treatment recommendations for glycogen storage disease type..:

Grünert, Sarah C. ; Derks, Terry G.J. ; Mundy, Helen...
Molecular Genetics and Metabolism.  141 (2024)  3 - p. 108144 , 2024
Link: https://doi.org/10.1016/..
 
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7

Lack of mitochondrial complex I assembly factor NDUFAF2 res..:

Abu Hanna, Firas ; Zehavi, Yoav ; Cohen-Barak, Eran...
Orphanet Journal of Rare Diseases.  19 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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8

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/..
 
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9

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/..
 
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10

Early maturation and hyperexcitability is a shared phenotyp..:

Hussein, Yara ; Tripathi, Utkarsh ; Choudhary, Ashwani...
Translational Psychiatry.  13 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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11

Molybdenum cofactor deficiency: A natural history:

Spiegel, Ronen ; Schwahn, Bernd C. ; Squires, Liza.
Journal of Inherited Metabolic Disease.  45 (2022)  3 - p. 456-469 , 2022
Link: https://doi.org/10.1002/..
 
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12

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/..
 
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13

A Novel Homozygous Missense Variant in the LRRC32 Gene Is A..:

Hexner-Erlichman, Zufit ; Fichtman, Boris ; Zehavi, Yoav...
Frontiers in Pediatrics.  10 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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14

A favorable outcome in an infantile-onset Pompe patient wit..:

Curelaru, Shiri ; Desai, Ankit K. ; Fink, Daniel...
Molecular Genetics and Metabolism Reports.  32 (2022)  - p. 100893 , 2022
Link: https://doi.org/10.1016/..
 
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15

Favorable outcome of empagliflozin treatment in two pediatr..:

Hexner-Erlichman, Zufit ; Veiga-da-Cunha, Maria ; Zehavi, Yoav...
Frontiers in Pediatrics.  10 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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