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1.
Long-term personalized high-protein, high-fat diet in pediatric patients with glycogen storage disease type IIIa: Evaluation of myopathy, metabolic control, physical activity, growth, and dietary compliance.
J Inherit Metab Dis;
2024 Apr 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-38623712
2.
Long-term clinical outcomes and management of hypertriglyceridemia in children with Apo-CII deficiency.
Nutr Metab Cardiovasc Dis;
2024 Feb 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-38503616
3.
Hematopoietic stem cell transplantation with reduced toxicity conditioning regimen in mitochondrial neurogastrointestinal encephalopathy syndrome.
Pediatr Blood Cancer;
70(7): e30334, 2023 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-37046411
4.
Experience with carnitine palmitoyltransferase II deficiency: diagnostic challenges in the myopathic form.
J Pediatr Endocrinol Metab;
37(1): 33-41, 2024 Jan 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-37925743
5.
Mild Aromatic L-Amino Acid Decarboxylase Deficiency: As A Reason For Hypoketotic Hypoglycemia In A 4-Year-Old Girl.
J Clin Res Pediatr Endocrinol;
2023 Jan 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-36598177
6.
Unique clinical presentations and follow-up outcomes from experience with congenital disorders of glycosylation: PMM2-PGM1-DPAGT1-MPI-POMT2-B3GALNT2-DPM1-SRD5A3-CDG.
J Pediatr Endocrinol Metab;
36(6): 530-538, 2023 Jun 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-37042760
7.
COVID-19 and Vaccination Status in Lysosomal Storage Diseases: A Single-Center Experience.
Turk Arch Pediatr;
58(3): 262-267, 2023 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-37144258
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