Detalhe da pesquisa
1.
Gain-of-function variants in CLCN7 cause hypopigmentation and lysosomal storage disease.
J Biol Chem
; : 107437, 2024 Jun 03.
Artigo
Inglês
| MEDLINE | ID: mdl-38838776
2.
Airway management and perioperative adverse events in children with mucopolysaccharidoses and mucolipidoses: A retrospective cohort study.
Paediatr Anaesth
; 30(2): 181-190, 2020 02.
Artigo
Inglês
| MEDLINE | ID: mdl-31834659
3.
Hippocampal synaptic connectivity in phenylketonuria.
Hum Mol Genet
; 24(4): 1007-18, 2015 Feb 15.
Artigo
Inglês
| MEDLINE | ID: mdl-25296915
4.
Acute renal proximal tubule alterations during induced metabolic crises in a mouse model of glutaric aciduria type 1.
Biochim Biophys Acta
; 1832(10): 1463-72, 2013 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-23623985
5.
Combined D2-/L2-hydroxyglutaric aciduria (SLC25A1 deficiency): clinical course and effects of citrate treatment.
J Inherit Metab Dis
; 37(5): 775-81, 2014 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-24687295
6.
Glutaric aciduria type 1 metabolites impair the succinate transport from astrocytic to neuronal cells.
J Biol Chem
; 286(20): 17777-84, 2011 May 20.
Artigo
Inglês
| MEDLINE | ID: mdl-21454630
7.
Proteolytic processing of the gamma-subunit is associated with the failure to form GlcNAc-1-phosphotransferase complexes and mannose 6-phosphate residues on lysosomal enzymes in human macrophages.
J Biol Chem
; 285(31): 23936-44, 2010 Jul 30.
Artigo
Inglês
| MEDLINE | ID: mdl-20489197
8.
Analysis of potential biomarkers and modifier genes affecting the clinical course of CLN3 disease.
Mol Med
; 17(11-12): 1253-61, 2011.
Artigo
Inglês
| MEDLINE | ID: mdl-21863212
9.
Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome.
Am J Med Genet A
; 155A(7): 1634-9, 2011 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-21671382
10.
A charitable access program for patients with lysosomal storage disorders in underserved communities worldwide.
Orphanet J Rare Dis
; 16(1): 8, 2021 01 06.
Artigo
Inglês
| MEDLINE | ID: mdl-33407729
11.
Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH).
Hum Mol Genet
; 17(24): 3854-63, 2008 Dec 15.
Artigo
Inglês
| MEDLINE | ID: mdl-18775954
12.
Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship.
Hum Mutat
; 30(5): E651-61, 2009 May.
Artigo
Inglês
| MEDLINE | ID: mdl-19309691
13.
Transport and distribution of 3-hydroxyglutaric acid before and during induced encephalopathic crises in a mouse model of glutaric aciduria type 1.
Biochim Biophys Acta
; 1782(6): 385-90, 2008 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-18348873
14.
Growth charts for patients with Sanfilippo syndrome (Mucopolysaccharidosis type III).
Orphanet J Rare Dis
; 14(1): 93, 2019 05 02.
Artigo
Inglês
| MEDLINE | ID: mdl-31046785
15.
The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome).
Hum Mutat
; 29(5): 770, 2008 May.
Artigo
Inglês
| MEDLINE | ID: mdl-18407553
16.
Reduced cerebral fluoro-L-dopamine uptake in adult patients suffering from phenylketonuria.
J Cereb Blood Flow Metab
; 28(4): 824-31, 2008 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-17971791
17.
High concentrations of phenylalanine stimulate peroxisome proliferator-activated receptor gamma: implications for the pathophysiology of phenylketonuria.
Neurobiol Dis
; 32(3): 385-90, 2008 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-18755275
18.
Pregnancies in glycogen storage disease type Ia.
Am J Obstet Gynecol
; 198(6): 646.e1-7, 2008 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-18241814
19.
3-Hydroxyglutaric acid is transported via the sodium-dependent dicarboxylate transporter NaDC3.
J Mol Med (Berl)
; 85(7): 763-70, 2007 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-17356845
20.
Elevated phenylalanine levels interfere with neurite outgrowth stimulated by the neuronal cell adhesion molecule L1 in vitro.
FEBS Lett
; 580(14): 3489-92, 2006 Jun 12.
Artigo
Inglês
| MEDLINE | ID: mdl-16716305