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1.
Complex metabolic disharmony in PMM2-CDG paves the way to new therapeutic approaches.
Mol Genet Metab
; 139(3): 107610, 2023 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-37245379
2.
Production of an Anise- and Woodruff-like Aroma by Monokaryotic Strains of Pleurotus sapidus Grown on Citrus Side Streams.
Molecules
; 27(3)2022 Jan 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-35163915
3.
Human heterologous liver cells transiently improve hyperammonemia and ureagenesis in individuals with severe urea cycle disorders.
J Inherit Metab Dis
; 41(1): 81-90, 2018 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-29027067
4.
Long-term disease course of two patients with multiple sulfatase deficiency differs from metachromatic leukodystrophy in a broad cohort.
JIMD Rep
; 58(1): 80-88, 2021 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-33728250
5.
Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations.
Hum Mutat
; 31(5): E1348-60, 2010 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-20232353
6.
Comparison of early pregnancy serum concentration of neopterin, neopterin/creatinine ratio, C-reactive protein, and chitotriosidase, in pregnant women with birth at term and spontaneous preterm birth.
Exp Ther Med
; 20(3): 2449-2454, 2020 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-32765732
7.
GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.
Hum Mutat
; 30(8): 1214-21, 2009 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-19472408
8.
Neonatal manifestation of multiple sulfatase deficiency.
Eur J Pediatr
; 168(8): 969-73, 2009 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-19066960
9.
Multigene panel next generation sequencing in a patient with cherry red macular spot: Identification of two novel mutations in NEU1 gene causing sialidosis type I associated with mild to unspecific biochemical and enzymatic findings.
Mol Genet Metab Rep
; 10: 1-4, 2017 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-27942463
10.
Clinical Research in Vulnerable Populations: Variability and Focus of Institutional Review Boards' Responses.
PLoS One
; 10(8): e0135997, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-26275228
11.
A novel autosomal recessive TERT T1129P mutation in a dyskeratosis congenita family leads to cellular senescence and loss of CD34+ hematopoietic stem cells not reversible by mTOR-inhibition.
Aging (Albany NY)
; 7(11): 911-27, 2015 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-26546739
12.
A novel mutation in UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) in two siblings with mucolipidosis type III alters a used glycosylation site.
Hum Mutat
; 24(6): 535, 2004 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-15532026
13.
Different phenotypes in human prostate cancer: alpha6 or alpha3 integrin in cell-extracellular adhesion sites.
Neoplasia
; 4(3): 243-54, 2002.
Artículo
en Inglés
| MEDLINE | ID: mdl-11988844
14.
Language and cognition in children with metachromatic leukodystrophy: onset and natural course in a nationwide cohort.
Orphanet J Rare Dis
; 9: 18, 2014 Feb 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-24499656
15.
Aspartylglucosaminuria: unusual neonatal presentation in Qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish family.
J Child Neurol
; 29(1): 36-42, 2014 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-23271757
16.
Paranoid delusion as lead symptom in two siblings with late-onset Tay-Sachs disease and a novel mutation in the HEXA gene.
J Neurol
; 262(4): 1072-3, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-25860343
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