Keywords: بیماری خرچنگ; LSD; Newborn screening; Lysosomal storage disorder; Fabry disease; Pompe disease; Gaucher disease; Krabbe disease; Mucopolysaccharidosis type I; Niemann-Pick A/B;
مقالات ISI بیماری خرچنگ (ترجمه نشده)
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در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
Keywords: بیماری خرچنگ; Metachromatic leukodystrophy; Child; Gallbladder; Adrenoleukodystrophy; Krabbe disease;
Keywords: بیماری خرچنگ; Newborn screening; Genetic screening; Ethics; Public policy; Duchenne muscular dystrophy; Krabbe disease; Fragile X syndrome;
Keywords: بیماری خرچنگ; Krabbe disease; globoid cell leukodystrophy; galactocerebrosidase; lysosomal storage disease; gene therapy; bone marrow transplantation;
Keywords: بیماری خرچنگ; Krabbe disease; MRI; magnetic resonance imaging; Krabbe phenotypes; age-related findings
Developmental defects and aberrant accumulation of endogenous psychosine in oligodendrocytes in a murine model of Krabbe disease
Keywords: بیماری خرچنگ; Krabbe disease; Oligodendrocyte; Demyelination; Leukodystrophy; Sphingolipidoses; Lysosomal storage disease;
Psychosine, a marker of Krabbe phenotype and treatment effect
Keywords: بیماری خرچنگ; EIKD; early-infantile Krabbe disease; KD; Krabbe disease; LIKD; late-infantile Krabbe disease; NBS; newborn screening; HSCT; hematopoietic stem cell transplantation; Krabbe disease; Globoid cell leukodystrophy; Psychosine; Galactosylsphingosine; Newborn s
Original articleLate onset Krabbe disease due to the new GALC p.Ala543Pro mutation, with intriguingly high residual GALC activity in vitro
Keywords: بیماری خرچنگ; Galactosylceramide degradation; Late onset Krabbe disease; Mutation introducing proline; Residual GALC activity; Skin ultrastructure; Specific inclusions; GAC; galactosylceramide; GALC; galactosylceramidase; KD; Krabbe disease; LOKD; late-onset Krabbe dis
Intravenous injection of AAVrh10-GALC after the neonatal period in twitcher mice results in significant expression in the central and peripheral nervous systems and improvement of clinical features
Keywords: بیماری خرچنگ; GLD; Globoid cell leukodystrophy; GALC; Galactocerebrosidase; twi; Twitcher; PND; Post-natal day; CNS; Central nervous system; PNS; Peripheral nervous system; HSCT; Hematopoietic stem cell transplantation; MLD; Metachromatic leukodystrophy; LFB/PAS; Luxol
Novel diffusion tensor imaging findings in Krabbe disease
Keywords: بیماری خرچنگ; Krabbe disease; Magnetic resonance imaging; Diffusion tensor imaging; Radial diffusivity
Pharmacological chaperones increase residual β-galactocerebrosidase activity in fibroblasts from Krabbe patients
Keywords: بیماری خرچنگ; GALC; β-galactocerebrosidase; GLD; globoid cell leukodistrophy; ERT; enzyme replacement therapy; CNS; central nervous system; PNS; peripheral nervous system; LSDs; lysosomal storage diseases; Krabbe disease; Pharmacological chaperones; Missense mutations
Late-onset Krabbe disease is predominant in Japan and its mutant precursor protein undergoes more effective processing than the infantile-onset form
Keywords: بیماری خرچنگ; ASA; solvent-accessible surface area; BMT; bone marrow transplantation; GALC; galactocerebrosidase; GalCer; galactocerebroside; HM-gal; 6-hexadecanoylamino-4-methylumbelliferyl-β-d-galactopyranoside; RMSD; root-mean-square distance; TIM; central trioseph
A high-throughput screening assay using Krabbe disease patient cells
Keywords: بیماری خرچنگ; β-Galactocerebrosidase; High-throughput screening; Small molecules; Krabbe disease;
Quantification of psychosine in the serum of twitcher mouse by LC–ESI-tandem-MS analysis
Keywords: بیماری خرچنگ; LC–ESI-tandem-MS; Psychosine; Twitcher; Krabbe disease
Role of endogenous psychosine accumulation in oligodendrocyte differentiation and survival: Implication for Krabbe disease
Keywords: بیماری خرچنگ; Krabbe disease; Psychosine; Oligodendrocyte; Differentiation; Peroxisome; Myelin
Krabbe disease: Clinical, biochemical and molecular information on six new patients and successful retrospective diagnosis using stored newborn screening cards
Keywords: بیماری خرچنگ; Krabbe disease; Newborn screening; Galactocerebrosidase; Lysosomal storage diseases; Bone marrow transplant; HSCT;
Oxidative stress as a therapeutic target in globoid cell leukodystrophy
Keywords: بیماری خرچنگ; Krabbe Disease; N-acetyl cysteine; Bone marrow transplant; Twitcher; Lysosomal storage disease; Oxidative stress;
Psychosine induces the dephosphorylation of neurofilaments by deregulation of PP1 and PP2A phosphatases
Keywords: بیماری خرچنگ; GALC; galactosyl-ceramidase; NF; neurofilament; NFL; neurofilament light polypeptide; NFM; neurofilament medium polypeptide; NFH; neurofilament heavy polypeptide; PP1; protein phosphatase 1; PP2A; protein phosphatase 2A; TEM; transmission electron microsc
DTI registration in atlas based fiber analysis of infantile Krabbe disease
Keywords: بیماری خرچنگ; Diffusion tensor imaging; Registration; Krabbe disease; Fiber tracts; MRI; Evaluation metrics;
Choroba Krabbego leukodystrofia globoidalna - opis 2 przypadków
Keywords: بیماری خرچنگ; choroba Krabbego; leukodystrofia globoidalna; choroba lizosomalna; Krabbe disease; globoid cell leukodystrophy; lysosomal disease;
Significant correction of pathology in brains of twitcher mice following injection of genetically modified mouse neural progenitor cells
Keywords: بیماری خرچنگ; Apoptosis; Galactocerebrosidase; Globoid cell leukodystrophy; Krabbe disease; Neural progenitor cells; Oligodendrocytes; Remyelination; Twitcher mice
Psychosine-induced alterations in peroxisomes of twitcher mouse liver
Keywords: بیماری خرچنگ; TNF-α; IL-6; Neuroinflammation; Krabbe disease; Twitcher mouse; Peroxisomes; Psychosine; Sphingolipid; Catalase; Liver
Comparison between the biochemical properties of plasma chitotriosidase from normal individuals and from patients with Gaucher disease, GM1-gangliosidosis, Krabbe disease and heterozygotes for Gaucher disease
Keywords: بیماری خرچنگ; Chitotriosidase; Gaucher disease; GM1-gangliosidosis; Krabbe disease; Enzyme kinetics; Lysosomal storage diseases
Dysfunction of peroxisomes in twitcher mice brain: A possible mechanism of psychosine-induced disease
Keywords: بیماری خرچنگ; Psychosine; Krabbe disease; Peroxisomes; Twitcher mice; Neuroinflammation
A mutation in the saposin A coding region of the prosaposin gene in an infant presenting as Krabbe disease: first report of saposin A deficiency in humans
Keywords: بیماری خرچنگ; Krabbe disease; Sphingolipid activator proteins; Prosaposin; Saposin A; Saposin C; Galactocerebrosidase; Galactosylceramide; Sulphatide loading;
Biochemical and pathological evaluation of long-lived mice with globoid cell leukodystrophy after bone marrow transplantation
Keywords: بیماری خرچنگ; Krabbe disease; Globoid cell leukodystrophy; Bone marrow transplantation; Myelin; Galactocerebrosidase; Lysosomal storage disease; Twitcher mouse; Psychosine;
Heredofamilial Brain Calcinosis Syndrome
Keywords: بیماری خرچنگ; AHO; Albright hereditary osteodystrophy; APS; autoimmune polyglandular syndrome; BCS; brain calcinosis syndrome; COFS; cerebrooculo-facio-skeletal; CS; Cockayne syndrome; CT; computed tomography; DHPR; dihydropteridine reductase; GALC; galactocerebrosidas
GALC transduction leads to morphological improvement of the twitcher oligodendrocytes in vivo
Keywords: بیماری خرچنگ; Krabbe disease; Twitcher; Galactocerebrosidase; Oligodendrocyte; Gene therapy; Retrovirus vector;