| 1 |
32681750 | International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management. | 2021 Jan |
1 |
| 2 |
33407696 | Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up. | 2021 Jan 6 |
1 |
| 3 |
33473337 | Galactose treatment of a PGM1 patient presenting with restrictive cardiomyopathy. | 2021 Jan |
1 |
| 4 |
34043239 | A new D-galactose treatment monitoring index for PGM1-CDG. | 2021 Sep |
6 |
| 5 |
33342467 | Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots. | 2020 Sep - Oct |
1 |
| 6 |
30982613 | The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG. | 2019 May 2 |
3 |
| 7 |
29702557 | CDG Therapies: From Bench to Bedside. | 2018 Apr 27 |
1 |
| 8 |
28126686 | Partial correction of neutrophil dysfunction by oral galactose therapy in glycogen storage disease type Ib. | 2017 Mar |
1 |
| 9 |
28617415 | Oral D-galactose supplementation in PGM1-CDG. | 2017 Nov |
5 |
| 10 |
28794993 | Limitations of galactose therapy in phosphoglucomutase 1 deficiency. | 2017 Dec |
1 |
| 11 |
29112118 | Nutritional Therapies in Congenital Disorders of Glycosylation (CDG). | 2017 Nov 7 |
4 |
| 12 |
26303607 | News on Clinical Details and Treatment in PGM1-CDG. | 2016 |
1 |
| 13 |
24997537 | Galactose supplementation in phosphoglucomutase-1 deficiency; review and outlook for a novel treatable CDG. | 2014 Aug |
1 |