Progressive neurologic dysfunctions 20 years after allogeneic bone marrow transplantation for Chediak-Higashi syndrome.
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Towards the targeted management of Chediak-Higashi syndromeElevated oxidative membrane damage associated with genetic modifiers of Lyst-mutant phenotypesChediak-Higashi syndrome presenting as young-onset levodopa-responsive parkinsonism.An inherited macrothrombocytopenic disorder with abnormal large granules.Differences in Granule Morphology yet Equally Impaired Exocytosis among Cytotoxic T Cells and NK Cells from Chediak-Higashi Syndrome PatientsPotential large animal models for gene therapy of human genetic diseases of immune and blood cell systemsTwo novel mutations identified in an african-american child with chediak-higashi syndrome.Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy.Hematopoietic stem cell transplantation for primary immunodeficiencies.Regulation of synaptic transmission by RAB-3 and RAB-27 in Caenorhabditis elegans.Atypical Chédiak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease.Neurologic involvement in patients with atypical Chediak-Higashi disease.Hematopoietic cell transplantation for correction of primary immunodeficiencies.Whole Genome Sequencing Identifies Novel Compound Heterozygous Lysosomal Trafficking Regulator Gene Mutations Associated with Autosomal Recessive Chediak-Higashi Syndrome.Pediatric hemophagocytic syndromes: a diagnostic and therapeutic challengeInherited defects in lymphocyte cytotoxic activity.Primary immunodeficiency diseases associated with neurologic manifestations.Peripheral neuropathy and parkinsonism: a large clinical and pathogenic spectrum.Successful Hematopoietic Stem Cell Transplantation in a Patient with LPS-Responsive Beige-Like Anchor (LRBA) Gene Mutation.Peripheral nervous system manifestations of Chediak-Higashi disease.Four cases of Chédiak-Higashi syndrome.A novel frameshift mutation of Chediak-Higashi syndrome and treatment in the accelerated phase.Clinical characteristics and outcomes of chédiak-Higashi syndrome: a nationwide survey of Japan.Chediak-Higashi syndrome: description of two novel homozygous missense mutations causing divergent clinical phenotype.A case of Chediak-Higashi syndrome presented with accelerated phase could be treated effectively by unrelated cord blood transplantation.Neurological Manifestations of Primary Immunodeficiency Diseases.Allogeneic hematopoietic stem cell transplantation for Chediak-Higashi syndrome.Optic neuropathy in late-onset neurodegenerative Chédiak-Higashi syndrome.Griscelli syndrome type 2: a rare and lethal disorder.Neurological Manifestations of Primary ImmunodeficienciesInherited defects causing hemophagocytic lymphohistiocytic syndrome
P2860
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P2860
Progressive neurologic dysfunctions 20 years after allogeneic bone marrow transplantation for Chediak-Higashi syndrome.
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年学术文章
@wuu
2005年学术文章
@zh
2005年学术文章
@zh-cn
2005年学术文章
@zh-hans
2005年学术文章
@zh-my
2005年学术文章
@zh-sg
2005年學術文章
@yue
2005年學術文章
@zh-hant
name
Progressive neurologic dysfunc ...... for Chediak-Higashi syndrome.
@en
Progressive neurologic dysfunc ...... for Chediak-Higashi syndrome.
@nl
type
label
Progressive neurologic dysfunc ...... for Chediak-Higashi syndrome.
@en
Progressive neurologic dysfunc ...... for Chediak-Higashi syndrome.
@nl
prefLabel
Progressive neurologic dysfunc ...... for Chediak-Higashi syndrome.
@en
Progressive neurologic dysfunc ...... for Chediak-Higashi syndrome.
@nl
P2093
P1433
P1476
Progressive neurologic dysfunc ...... n for Chediak-Higashi syndrome
@en
P2093
Alain Fischer
Bénédicte Neven
Catherine Lacroix
Marc Tardieu
Pierre Bordigoni
Stéphane Blanche
P356
10.1182/BLOOD-2005-01-0319
P407
P577
2005-03-24T00:00:00Z