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22 results on '"S. Rosenbaum-Fabian"'

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1. Citrin deficiency mimicking mitochondrial depletion syndrome

2. Weaning practices in phenylketonuria vary between health professionals in Europe

3. Early feeding practices in infants with phenylketonuria across Europe

4. International practices in the dietary management of fructose 1-6 biphosphatase deficiency

5. International practices in the dietary management of fructose 1-6 biphosphatase deficiency

6. How strict is galactose restriction in adults with galactosaemia? International practice

7. Prävention im Jugendalter

8. Psychosocial issues and coping strategies in families affected by long-chain fatty acid oxidation disorders.

9. Two successful pregnancies and first use of empagliflozin during pregnancy in glycogen storage disease type Ib.

10. Preventing maternal phenylketonuria (PKU) syndrome: important factors to achieve good metabolic control throughout pregnancy.

11. Successful pregnancy in a woman with glycogen storage disease type 6.

12. Identification and Characterization of a Novel Splice Site Mutation Associated with Glycogen Storage Disease Type VI in Two Unrelated Turkish Families.

13. Hepatorenal Tyrosinaemia: Impact of a Simplified Diet on Metabolic Control and Clinical Outcome.

14. Citrin deficiency mimicking mitochondrial depletion syndrome.

15. Three successful pregnancies in a patient with glycogen storage disease type 0.

16. Improved inflammatory bowel disease, wound healing and normal oxidative burst under treatment with empagliflozin in glycogen storage disease type Ib.

17. Elevated Plasma Vitamin B 12 in Patients with Hepatic Glycogen Storage Diseases.

18. Weaning practices in phenylketonuria vary between health professionals in Europe.

19. Early feeding practices in infants with phenylketonuria across Europe.

20. Successful pregnancy in maple syrup urine disease: a case report and review of the literature.

21. International practices in the dietary management of fructose 1-6 biphosphatase deficiency.

22. Effect of dietary regime on metabolic control in phenylketonuria: Is exact calculation of phenylalanine intake really necessary?

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