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Chediak-Higashi syndrome: Lysosomal trafficking regulator domains regulate exocytosis of lytic granules but not cytokine secretion by natural killer cells

Journal of allergy and clinical immunology, 2016-04, Vol.137 (4), p.1165-1177

2016

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A 3-year randomized therapeutic trial of nitisinone in alkaptonuria

Molecular genetics and metabolism, 2011-08, Vol.103 (4), p.307-314

2011

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Genetic variants associated with Hermansky-Pudlak syndrome

Platelets (Edinburgh), 2020-05, Vol.31 (4), p.544-547

2020

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Chediak-Higashi syndrome presenting as young-onset levodopa-responsive parkinsonism

Movement disorders, 2013-02, Vol.28 (2), p.127-129

2013

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Exome analysis of Smith–Magenis-like syndrome cohort identifies de novo likely pathogenic variants

Human genetics, 2017-04, Vol.136 (4), p.409-420

2017

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cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome

Frontiers in genetics, 2023-03, Vol.14, p.1072784-1072784

2023

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The neuropsychological phenotype of Chediak-Higashi disease

Orphanet journal of rare diseases, 2019-05, Vol.14 (1), p.101-101, Article 101

2019

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Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising

Orphanet journal of rare diseases, 2019-02, Vol.14 (1), p.52-52, Article 52

2019

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Nitisinone: two decades treating hereditary tyrosinaemia type 1

The lancet. Diabetes & endocrinology, 2021-07, Vol.9 (7), p.409-411

Introne, Wendy J

2021

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Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion

PloS one, 2011-08, Vol.6 (8), p.e22861

2011

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Investigating Determinants and Evaluating Deep Learning Training Approaches for Visual Acuity in Foveal Hypoplasia

Ophthalmology science (Online), 2023-03, Vol.3 (1), p.100225-100225, Article 100225

2023

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Aortic stenosis and vascular calcifications in alkaptonuria

Molecular genetics and metabolism, 2012-02, Vol.105 (2), p.198-202

2012

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Chediak-Higashi syndrome

Current opinion in hematology, 2023-07, Vol.30 (4), p.144-151

2023

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LYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and size

Cellular and molecular life sciences : CMLS, 2023-02, Vol.80 (2), p.53-53, Article 53

2023

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Patient-reported outcomes and functional assessments of patients with Alkaptonuria in a 3-year Nitisinone treatment trial

Molecular genetics and metabolism, 2024-09, Vol.143 (1-2), p.108562, Article 108562

2024

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An actin cytoskeletal barrier inhibits lytic granule release from natural killer cells in patients with Chediak-Higashi syndrome

Journal of allergy and clinical immunology, 2018-09, Vol.142 (3), p.914-927.e6

2018

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Role of lysosomal trafficking regulator in autophagic lysosome reformation in neurons: a disease perspective

Neural regeneration research, 2024-05, Vol.19 (5), p.957-958

2024

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Phenotype and Course of Hutchinson–Gilford Progeria Syndrome

The New England journal of medicine, 2008-02, Vol.358 (6), p.592-604

2008

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Correction: LYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and size

Cellular and molecular life sciences : CMLS, 2023-03, Vol.80 (3), p.81-81, Article 81

2023

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Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature

Journal of medical genetics, 2024-03, Vol.61 (3), p.212-223

2024

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Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails

American journal of human genetics, 2019-03, Vol.104 (3), p.520-529

2019

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Peripheral nervous system manifestations of Chediak‐Higashi disease

Muscle & nerve, 2017-03, Vol.55 (3), p.359-365

2017

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Leukodystrophies in Children: Diagnosis, Care, and Treatment

Pediatrics (Evanston), 2021-09, Vol.148 (3), p.1

2021

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Prolonged treatment with open-label pirfenidone in Hermansky-Pudlak syndrome pulmonary fibrosis

Molecular genetics and metabolism, 2018-09, Vol.125 (1-2), p.168-173

2018

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Management Principles for Acute Illness in Patients With Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

Pediatrics (Evanston), 2021-01, Vol.147 (1), p.1

2021

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Chediak-Higashi syndrome: Lysosomal trafficking regulator domains regulate exocytosis of lytic granules but not cytokine secretion by natural killer cells

A 3-year randomized therapeutic trial of nitisinone in alkaptonuria

Genetic variants associated with Hermansky-Pudlak syndrome

Chediak-Higashi syndrome presenting as young-onset levodopa-responsive parkinsonism

Exome analysis of Smith–Magenis-like syndrome cohort identifies de novo likely pathogenic variants

cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome

The neuropsychological phenotype of Chediak-Higashi disease

Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising

Nitisinone: two decades treating hereditary tyrosinaemia type 1

Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion

Investigating Determinants and Evaluating Deep Learning Training Approaches for Visual Acuity in Foveal Hypoplasia

Aortic stenosis and vascular calcifications in alkaptonuria

Chediak-Higashi syndrome

LYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and size

Patient-reported outcomes and functional assessments of patients with Alkaptonuria in a 3-year Nitisinone treatment trial

An actin cytoskeletal barrier inhibits lytic granule release from natural killer cells in patients with Chediak-Higashi syndrome

Role of lysosomal trafficking regulator in autophagic lysosome reformation in neurons: a disease perspective

Phenotype and Course of Hutchinson–Gilford Progeria Syndrome

Correction: LYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and size

Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature

Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails

Peripheral nervous system manifestations of Chediak‐Higashi disease

Leukodystrophies in Children: Diagnosis, Care, and Treatment

Prolonged treatment with open-label pirfenidone in Hermansky-Pudlak syndrome pulmonary fibrosis

Management Principles for Acute Illness in Patients With Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

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