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1.
Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease.
Mol Genet Metab
; 141(3): 108118, 2024 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-38244286
2.
Renal outcome and plasma methylmalonic acid levels after isolated or combined liver or kidney transplantation in patients with methylmalonic acidemia: A multicenter analysis.
Mol Genet Metab
; 137(3): 265-272, 2022 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-36240580
3.
Organ donation from patients with a rare disease is often safe: the italian guidelines.
Clin Transplant
; 36(9): e14769, 2022 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-35906735
4.
Utilization of volumetric absorptive microsampling and dried plasma spot for quantification of anti-fungal triazole agents in pediatric patients by using liquid chromatography-tandem mass spectrometry.
J Pharm Biomed Anal
; 236: 115688, 2023 Nov 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-37683371
5.
Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency.
Orphanet J Rare Dis
; 18(1): 197, 2023 07 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-37480063
6.
Diagnostic approach to neonatal and infantile cholestasis: A position paper by the SIGENP liver disease working group.
Dig Liver Dis
; 54(1): 40-53, 2022 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-34688573
7.
Thiamine Deficiency in a Developed Country: Acute Lactic Acidosis in Two Neonates Due to Unsupplemented Parenteral Nutrition.
JPEN J Parenter Enteral Nutr
; 40(6): 886-9, 2016 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-25591974
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