Publications by authors named "Marjan Huizing"

98Publications

Genetic variants associated with Hermansky-Pudlak syndrome.

Platelets 2020 May 5;31(4):544-547. Epub 2019 Sep 5.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health , Bethesda, MD, USA.

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May 2020

Inherited disorders of lysosomal membrane transporters.

Biochim Biophys Acta Biomembr 2020 12 8;1862(12):183336. Epub 2020 May 8.

Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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December 2020

Hermansky-Pudlak syndrome: Mutation update.

Hum Mutat 2020 03 23;41(3):543-580. Epub 2020 Jan 23.

Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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March 2020

Rationale and Design for a Phase 1 Study of -Acetylmannosamine for Primary Glomerular Diseases.

Kidney Int Rep 2019 Oct 25;4(10):1454-1462. Epub 2019 Jun 25.

Kidney Disease Section, Kidney Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, USA.

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October 2019

Quantitation of cytidine-5'-monophospho-N-acetylneuraminic acid in human leukocytes using LC-MS/MS: method development and validation.

Biomed Chromatogr 2020 Feb 8;34(2):e4735. Epub 2020 Jan 8.

Therapeutic Development Branch, National Center for Advancing Translational Sciences, National Institutes of Health, Rockville, MD, USA.

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February 2020

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

Orphanet J Rare Dis 2019 02 21;14(1):52. Epub 2019 Feb 21.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, MSC 1851, Bethesda, MD, 20892-1851, USA.

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February 2019

GNE Myopathy: Etiology, Diagnosis, and Therapeutic Challenges.

Neurotherapeutics 2018 10;15(4):900-914

Medical Genetics Branch, National Human Genome Research Institute (NHGRI), National Institutes of Health, Bethesda, MD, 20892, USA.

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October 2018

Hermansky-Pudlak syndrome with a novel genetic variant in and subsequent accelerated pulmonary fibrosis: significance for phenocopy diseases.

Thorax 2018 11 25;73(11):1085-1088. Epub 2018 Jun 25.

Irish Centre for Genetic Lung Disease, Royal College of Surgeons in Ireland, Beaumont Hospital, Dublin, Ireland.

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November 2018

Quantification of lectin fluorescence in GNE myopathy muscle biopsies.

Muscle Nerve 2018 Aug 23;58(2):286-292. Epub 2018 Apr 23.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, Bld. 10, Room 10C103 Bethesda, Maryland, 20892, USA.

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August 2018

Safety, pharmacokinetics and sialic acid production after oral administration of N-acetylmannosamine (ManNAc) to subjects with GNE myopathy.

Mol Genet Metab 2017 09 26;122(1-2):126-134. Epub 2017 Apr 26.

Therapeutics for Rare and Neglected Diseases, National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD 20892, USA; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address:

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September 2017

Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS.

Mol Genet Metab 2017 04 27;120(4):378-383. Epub 2017 Feb 27.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, Bethesda, MD 20892, USA.

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April 2017

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

Hum Genet 2017 04 17;136(4):409-420. Epub 2017 Feb 17.

Office of Clinical Director, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive MSC 1851, Building 10, 10-C103, Bethesda, MD, 20892, USA.

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April 2017

Neurologic involvement in patients with atypical Chediak-Higashi disease.

Neurology 2017 02;88(7):e57-e65

From the Office of the Clinical Director (W.J.I., C.A.G., V.B., G.A.G., W.A.G., C.T.) and Human Biochemical Genetics Section, Medical Genetics Branch (W.W., S.G.Z., M.C.V.M. D.R.A., H.M.D., R.A.H., M.H., W.A.G.), National Human Genome Research Institute, Department of Radiology and Imaging Sciences, Clinical Center (E.H.B.), Electromyography Section, Office of the Clinical Director, National Institute of Neurological Disorders and Stroke (T.J.L.), and Office of the Clinical Director, National Institute of Mental Health (J.S.), National Institutes of Health, Bethesda, MD; and Metabolic and Clinical Geneticist (V.B.), Department of Medical Genetics, Children's Hospitals and Clinics of Minnesota, Minneapolis.

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February 2017

Delayed diagnosis in a house of correction: Smith-Magenis syndrome due to a de novo nonsense RAI1 variant.

Am J Med Genet A 2016 09 17;170(9):2383-8. Epub 2016 Jun 17.

Office of Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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September 2016

Neurologic involvement in patients with atypical Chediak-Higashi disease.

Neurology 2016 04 4;86(14):1320-1328. Epub 2016 Mar 4.

From the Office of the Clinical Director (W.J.I., C.A.G., V.B., G.A.G., W.A.G., C.T.) and Human Biochemical Genetics Section, Medical Genetics Branch (W.W., A.R.C., S.G.Z., D.R.A., H.M.D., R.A.H., M.H., W.A.G.), National Human Genome Research Institute, Department of Radiology and Imaging Sciences, Clinical Center (E.H.B.), Electromyography Section, Office of the Clinical Director, National Institute of Neurological Disorders and Stroke (T.J.L.), and Office of the Clinical Director, National Institute of Mental Health (J.S.), National Institutes of Health, Bethesda, MD; and Metabolic and Clinical Geneticist (V.B.), Department of Medical Genetics, Children's Hospitals and Clinics of Minnesota, Minneapolis.

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April 2016

Quantitative hydrophilic interaction chromatography-mass spectrometry analysis of N-acetylneuraminic acid and N-acetylmannosamine in human plasma.

J Chromatogr B Analyt Technol Biomed Life Sci 2015 Sep 17;1000:105-11. Epub 2015 Jul 17.

Therapeutics for Rare and Neglected Diseases, National Center for Advancing Translational Sciences, National Institutes of Health, Rockville, MD 20850, USA.

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September 2015

In vitro functional correction of Hermansky-Pudlak Syndrome type-1 by lentiviral-mediated gene transfer.

Mol Genet Metab 2015 Jan 12;114(1):62-5. Epub 2014 Nov 12.

Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. Electronic address:

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January 2015

Pregnancy in autosomal recessive polycystic kidney disease.

Arch Gynecol Obstet 2015 Mar 12;291(3):705-8. Epub 2014 Sep 12.

Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, Building 10, Room 10C103CA, Bethesda, Maryland, 20892-1851, USA.

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March 2015

Atypical presentation of GNE myopathy with asymmetric hand weakness.

Neuromuscul Disord 2014 Dec 7;24(12):1063-7. Epub 2014 Aug 7.

Therapeutics for Rare and Neglected Diseases (TRND), National Center for Advancing Translational Sciences (NCATS), NIH, USA. Electronic address:

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December 2014

Mutation update for GNE gene variants associated with GNE myopathy.

Hum Mutat 2014 Aug;35(8):915-26

Therapeutics for Rare and Neglected Diseases, National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, Maryland.

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August 2014

Two novel compound heterozygous mutations in in two siblings with OPA3-related 3-methylglutaconic aciduria.

Mol Genet Metab Rep 2014 Jan;1:114-123

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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January 2014

GNE myopathy: new name and new mutation nomenclature.

Neuromuscul Disord 2014 May 13;24(5):387-9. Epub 2014 Mar 13.

Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.

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May 2014

UDP-GlcNAc 2-Epimerase/ManNAc Kinase (GNE): A Master Regulator of Sialic Acid Synthesis.

Top Curr Chem 2015 ;366:97-137

Department of Life Sciences and Technology, Beuth Hochschule für Technik Berlin, University of Applied Sciences, Berlin, Germany,

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November 2015

The BEACH is hot: a LYST of emerging roles for BEACH-domain containing proteins in human disease.

Traffic 2013 Jul 24;14(7):749-66. Epub 2013 Apr 24.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA.

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July 2013

1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis.

Clin J Am Soc Nephrol 2013 Apr 4;8(4):649-57. Epub 2013 Jan 4.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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April 2013

Murine isoforms of UDP-GlcNAc 2-epimerase/ManNAc kinase: Secondary structures, expression profiles, and response to ManNAc therapy.

Glycoconj J 2013 Aug 25;30(6):609-18. Epub 2012 Dec 25.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, MSC 1851 Bld 10, Rm 10C103, Bethesda, MD 20892-1851, USA.

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August 2013

Oral monosaccharide therapies to reverse renal and muscle hyposialylation in a mouse model of GNE myopathy.

Mol Genet Metab 2012 Dec 18;107(4):748-55. Epub 2012 Oct 18.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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December 2012

A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky-Pudlak Syndrome type 8.

Pigment Cell Melanoma Res 2012 Sep 2;25(5):584-91. Epub 2012 Aug 2.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

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September 2012

The BLOS1-interacting protein KXD1 is involved in the biogenesis of lysosome-related organelles.

Traffic 2012 Aug 28;13(8):1160-9. Epub 2012 May 28.

State Key Laboratory of Molecular and Developmental Biology, Institute of Genetics & Developmental Biology, Chinese Academy of Sciences, Beijing, 100101, China.

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August 2012

The Gne M712T mouse as a model for human glomerulopathy.

Am J Pathol 2012 Apr 7;180(4):1431-40. Epub 2012 Feb 7.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-1851, USA.

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April 2012

Interstitial lung disease and pulmonary fibrosis in Hermansky-Pudlak syndrome type 2, an adaptor protein-3 complex disease.

Mol Med 2012 Feb 10;18:56-64. Epub 2012 Feb 10.

Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-1851, United States of America.

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February 2012

Identification, tissue distribution, and molecular modeling of novel human isoforms of the key enzyme in sialic acid synthesis, UDP-GlcNAc 2-epimerase/ManNAc kinase.

Biochemistry 2011 Oct 19;50(41):8914-25. Epub 2011 Sep 19.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

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October 2011

Cellular and clinical report of new Griscelli syndrome type III cases.

Pigment Cell Melanoma Res 2012 Jan 3;25(1):47-56. Epub 2011 Oct 3.

Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda MD, USA.

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January 2012

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 8;6(8):e22861. Epub 2011 Aug 8.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America.

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February 2012

Clinical, molecular, and cellular features of non-Puerto Rican Hermansky-Pudlak syndrome patients of Hispanic descent.

J Invest Dermatol 2011 Dec 11;131(12):2394-400. Epub 2011 Aug 11.

Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-1851, USA.

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December 2011

A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9.

Am J Hum Genet 2011 Jun;88(6):778-787

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA; Intramural Office of Rare Diseases Research, Office of the Director, National Institutes of Health, Bethesda, MD 20892, USA.

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June 2011

Retro-orbital injections in mice.

Lab Anim (NY) 2011 May;40(5):155-60

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

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May 2011

Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2.

Mol Genet Metab 2010 Sep 10;101(1):62-5. Epub 2010 Jun 10.

Section on Human Biochemical Genetics, Medical Genetics Branch, NHGRI, NIH, Bethesda, MD 20892, USA.

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September 2010

Two novel mutations identified in an african-american child with chediak-higashi syndrome.

Case Rep Med 2010 24;2010:967535. Epub 2010 Mar 24.

Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, NY 10467, USA.

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July 2011

OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria.

Mol Genet Metab 2010 Jun 16;100(2):149-54. Epub 2010 Mar 16.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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June 2010

Molecular modeling of the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase and predictions of structural effects of mutations associated with HIBM and sialuria.

Glycobiology 2010 Mar 16;20(3):322-37. Epub 2009 Nov 16.

Department of Biophysics, The School of Theoretical Modeling, Chevy Chase, MD 20825, USA.

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March 2010

Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.

Hum Mutat 2009 Dec;30(12):1611-9

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, Maryland 20892, USA.

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December 2009

Alveolar macrophage dysregulation in Hermansky-Pudlak syndrome type 1.

Am J Respir Crit Care Med 2009 Dec 3;180(11):1114-21. Epub 2009 Sep 3.

Pulmonary-Critical Care Medicine Branch, National Heart, Lung, and Blood Institute, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

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December 2009

Hereditary inclusion body myopathy: a decade of progress.

Biochim Biophys Acta 2009 Sep 24;1792(9):881-7. Epub 2009 Jul 24.

Cell Biology of Metabolic Disorders Unit, National Human Genome Research Institute, National institutes of Health, Bethesda, MD 20892, USA.

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September 2009

Identifying putative promoter regions of Hermansky-Pudlak syndrome genes by means of phylogenetic footprinting.

Ann Hum Genet 2009 Jul;73(Pt 4):422-8

Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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July 2009

Hermansky-Pudlak syndrome type 1 in patients of Indian descent.

Mol Genet Metab 2009 Jul 2;97(3):227-33. Epub 2009 Apr 2.

Section on Human Biochemical Genetics, Medical Genetics Branch, NHGRI, NIH, 10 Center Drive, Bldg. 10, Rm 10C107, MSC1851, Bethesda, MD 20892-1851, USA.

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July 2009

Hermansky-Pudlak syndrome in two African-American brothers.

Am J Med Genet A 2009 May;149A(5):987-92

Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-1851, USA.

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May 2009

Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy.

Brain 2009 Jan 16;132(Pt 1):136-46. Epub 2008 Nov 16.

Department of Paediatrics, Nijmegen Center for Mitochondrial Disorders, Radbound University Medical Center Nijmegen, The Netherlands.

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January 2009

Allele-specific silencing of the dominant disease allele in sialuria by RNA interference.

FASEB J 2008 Nov 24;22(11):3846-52. Epub 2008 Jul 24.

Medical Genetics Branch, NHGRI, NIH, 10 Center Dr., MSC 1851, Bethesda, MD 20892, USA.

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November 2008

Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics.

Annu Rev Genomics Hum Genet 2008 ;9:359-86

Cell Biology of Metabolic Disorders Unit, National Institutes of Health, Bethesda, Maryland 20892, USA.

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December 2008

A novel mutation in a Turkish patient with Hermansky-Pudlak syndrome type 5.

Eur J Haematol 2008 Apr 21;80(4):356-60. Epub 2007 Dec 21.

Department of Haematology, VU University Medical Centre, Amsterdam, The Netherlands.

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April 2008

An immunoblotting assay to facilitate the molecular diagnosis of Hermansky-Pudlak syndrome.

Mol Genet Metab 2008 Feb 22;93(2):134-44. Epub 2007 Oct 22.

Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.

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February 2008

Platelet alpha granules in BLOC-2 and BLOC-3 subtypes of Hermansky-Pudlak syndrome.

Platelets 2007 Mar;18(2):150-7

National Human Genome Research Institute, National Institutes of Health, Section on Human Biochemical Genetics, Medical Genetics Branch, Bethesda, MD 20892-1851, USA.

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March 2007

Improper trafficking of melanocyte-specific proteins in Hermansky-Pudlak syndrome type-5.

J Invest Dermatol 2007 Jun 15;127(6):1471-8. Epub 2007 Feb 15.

Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland 20892-1851, USA.

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June 2007

Rab7 and Rab27a control two motor protein activities involved in melanosomal transport.

Pigment Cell Res 2006 Oct;19(5):412-23

Department of Tumour Biology, The Netherlands Cancer Institute, Amsterdam, The Netherlands.

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October 2006

Ileal Crohn's disease in a woman with Hermansky-Pudlak syndrome.

Gastroenterol Clin Biol 2006 Apr;30(4):621-4

Service d'Hépato-Gastroentérologie, Hôpital Européen Georges Pompidou, Paris.

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April 2006

Intestinal disease in Hermansky-Pudlak syndrome: occurrence of colitis and relation to genotype.

Clin Gastroenterol Hepatol 2006 Jan;4(1):73-80

National Institute of Diabetes & Digestive & Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892-1851, USA.

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January 2006

Optic neuropathies in inherited metabolic disorders.

Pediatr Endocrinol Rev 2005 Dec;3(2):97-103

National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

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December 2005

Optic atrophies in metabolic disorders.

Mol Genet Metab 2005 Sep-Oct;86(1-2):51-60. Epub 2005 Sep 27.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

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January 2006

Association of the Hermansky-Pudlak syndrome type-3 protein with clathrin.

BMC Cell Biol 2005 Sep 13;6:33. Epub 2005 Sep 13.

Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA.

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September 2005

Eye movement abnormalities in hermansky-pudlak syndrome.

J AAPOS 2005 Aug;9(4):369-78

Laboratory of Sensorimotor Research, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA.

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August 2005

Slc7a11 gene controls production of pheomelanin pigment and proliferation of cultured cells.

Proc Natl Acad Sci U S A 2005 Aug 21;102(31):10964-9. Epub 2005 Jul 21.

Department of Molecular and Cellular Biology, Roswell Park Cancer Institute, Elm and Carlton Streets, Buffalo, NY 14263, USA.

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August 2005