Detalhe da pesquisa
1.
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.
J Inherit Metab Dis
; 42(1): 5-28, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30740725
2.
Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation.
Hum Mutat
; 38(2): 148-151, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27862579
3.
Cholestane-3ß,5α,6ß-triol: high levels in Niemann-Pick type C, cerebrotendinous xanthomatosis, and lysosomal acid lipase deficiency.
J Lipid Res
; 56(10): 1926-35, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26239048
4.
The role of the abnormalities in the distal pathway of cholesterol biosynthesis in the Conradi-Hünermann-Happle syndrome.
Biochim Biophys Acta
; 1841(3): 336-44, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24036494
5.
Autophagy induction halts axonal degeneration in a mouse model of X-adrenoleukodystrophy.
Acta Neuropathol
; 129(3): 399-415, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25549970
6.
Severe infantile parkinsonism because of a de novo mutation on DLP1 mitochondrial-peroxisomal protein.
Mov Disord
; 32(7): 1108-1110, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28436574
7.
Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization.
Neurology
; 98(9): e912-e923, 2022 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35012964
8.
Lysine Restriction and Pyridoxal Phosphate Administration in a NADK2 Patient.
Pediatrics
; 138(5)2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27940755
9.
Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.
Orphanet J Rare Dis
; 10: 138, 2015 Oct 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-26502900
10.
The proteasome inhibitor bortezomib reduced cholesterol accumulation in fibroblasts from Niemann-Pick type C patients carrying missense mutations.
FEBS J
; 281(19): 4450-66, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25131710
11.
Modifying the peroxisomes by cell & tissue culture: II. Fibroblasts.
Adv Exp Med Biol
; 544: 265-70, 2003.
Artigo
em Inglês
| MEDLINE | ID: mdl-14713240
12.
Peroxisome mosaics.
Adv Exp Med Biol
; 544: 97-106, 2003.
Artigo
em Inglês
| MEDLINE | ID: mdl-14713220
13.
Evaluation of the preventive effect of glyceryl trioleate-trierucate ("Lorenzo's oil") therapy in X-linked adrenoleukodystrophy: results of two concurrent trials.
Adv Exp Med Biol
; 544: 369-87, 2003.
Artigo
em Inglês
| MEDLINE | ID: mdl-14713253
14.
A key role for the peroxisomal ABCD2 transporter in fatty acid homeostasis.
Am J Physiol Endocrinol Metab
; 296(1): E211-21, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18854420
15.
Functional overlap between ABCD1 (ALD) and ABCD2 (ALDR) transporters: a therapeutic target for X-adrenoleukodystrophy.
Hum Mol Genet
; 13(23): 2997-3006, 2004 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-15489218