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Marjan Huizing

Showing results (91-100 of 130) with videos related to

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Molecular Genetics and Metabolism|March 6, 2017
Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPSMelanie M Bryan, Nathanial J Tolman, Karen L Simon, et al.
Orphanet Journal of Rare Diseases|February 23, 2019
Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruisingBradley Power, Carlos R Ferreira, Dong Chen, et al.
Pigment Cell & Melanoma Research|September 3, 2011
Cellular and clinical report of new Griscelli syndrome type III casesWendy Westbroek, Aharon Klar, Andrew R Cullinane, et al.
Annals of Neurology|July 12, 2002
Adenine nucleotide translocator 1 deficiency associated with Sengers syndromeEric Z Jordens, Luigi Palmieri, Marjan Huizing, et al.
American Journal of Medical Genetics. Part A|May 27, 2010
Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1Irini Manoli, Gretchen Golas, Wendy Westbroek, et al.
Clinical Journal of the American Society of Nephrology : CJASN|January 8, 2013
1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of NephrolithiasisGalina Nesterova, May Christine Malicdan, Kaori Yasuda, et al.
Kidney International Reports|November 9, 2019
Rationale and Design for a Phase 1 Study of <i>N</i>-Acetylmannosamine for Primary Glomerular DiseasesMarjan Huizing, Tal Yardeni, Federico Fuentes, et al.
Molecular Genetics and Metabolism Reports|November 24, 2025
Profiling glycosphingolipid changes in mouse and human cellular models of lysosomal free sialic acid storage disorderMarya S Sabir, Kostantin Dobrenis, Allisandra K Rha, et al.
The Journal of Gene Medicine|May 5, 2010
Hereditary inclusion body myopathy: single patient response to GNE gene Lipoplex therapyGregory Nemunaitis, Phillip B Maples, Chris Jay, et al.
Molecular Genetics and Metabolism|June 24, 2017
Safety, pharmacokinetics and sialic acid production after oral administration of N-acetylmannosamine (ManNAc) to subjects with GNE myopathyXin Xu, Amy Q Wang, Lea L Latham, et al.
Pageof 13

Showing results (91-100 of 130) with videos related to

Sort By:
Pageof 13
Molecular Genetics and Metabolism|March 6, 2017
Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPSMelanie M Bryan, Nathanial J Tolman, Karen L Simon, et al.
Orphanet Journal of Rare Diseases|February 23, 2019
Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruisingBradley Power, Carlos R Ferreira, Dong Chen, et al.
Pigment Cell & Melanoma Research|September 3, 2011
Cellular and clinical report of new Griscelli syndrome type III casesWendy Westbroek, Aharon Klar, Andrew R Cullinane, et al.
Annals of Neurology|July 12, 2002
Adenine nucleotide translocator 1 deficiency associated with Sengers syndromeEric Z Jordens, Luigi Palmieri, Marjan Huizing, et al.
American Journal of Medical Genetics. Part A|May 27, 2010
Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1Irini Manoli, Gretchen Golas, Wendy Westbroek, et al.
Clinical Journal of the American Society of Nephrology : CJASN|January 8, 2013
1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of NephrolithiasisGalina Nesterova, May Christine Malicdan, Kaori Yasuda, et al.
Kidney International Reports|November 9, 2019
Rationale and Design for a Phase 1 Study of <i>N</i>-Acetylmannosamine for Primary Glomerular DiseasesMarjan Huizing, Tal Yardeni, Federico Fuentes, et al.
Molecular Genetics and Metabolism Reports|November 24, 2025
Profiling glycosphingolipid changes in mouse and human cellular models of lysosomal free sialic acid storage disorderMarya S Sabir, Kostantin Dobrenis, Allisandra K Rha, et al.
The Journal of Gene Medicine|May 5, 2010
Hereditary inclusion body myopathy: single patient response to GNE gene Lipoplex therapyGregory Nemunaitis, Phillip B Maples, Chris Jay, et al.
Molecular Genetics and Metabolism|June 24, 2017
Safety, pharmacokinetics and sialic acid production after oral administration of N-acetylmannosamine (ManNAc) to subjects with GNE myopathyXin Xu, Amy Q Wang, Lea L Latham, et al.
Pageof 13