Characterization of a Case of Pigmentary Retinopathy in Sanfilippo Syndrome Type IIIA Associated with Compound Heterozygous Mutations in the SGSH Gene

Identification and characterization of mutations underlying Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA)

Clinical Genetics ◽

10.1034/j.1399-0004.2002.610304.x ◽

2002 ◽

Vol 61 (3) ◽

pp. 192-197 ◽

Cited By ~ 14

Author(s):

GJ Lee-Chen ◽

SP Lin ◽

MH Ko ◽

CK Chuang ◽

CP Chen ◽

...

Keyword(s):

Type A ◽

Syndrome Type ◽

Sanfilippo Syndrome ◽

Type Iiia ◽

Identification And Characterization ◽

Clinical and genetic characterization of autosomal recessive stickler syndrome caused by novel compound heterozygous mutations in the COL9A3 gene

Molecular Genetics & Genomic Medicine ◽

10.1002/mgg3.1620 ◽

2021 ◽

Author(s):

Tatiana Markova ◽

Peter Sparber ◽

Artem Borovikov ◽

Tatiana Nagornova ◽

Elena Dadali

Keyword(s):

Autosomal Recessive ◽

Genetic Characterization ◽

Compound Heterozygous ◽

Stickler Syndrome ◽

Identification of two novel compound heterozygous mutations of ADGRV1 in a Chinese family with Usher syndrome type IIC

Ophthalmic Genetics ◽

10.1080/13816810.2018.1479430 ◽

2018 ◽

Vol 39 (4) ◽

pp. 517-521 ◽

Cited By ~ 1

Author(s):

Nian Zhang ◽

Juan Wang ◽

Shuting Liu ◽

Mugen Liu ◽

Fagang Jiang

Keyword(s):

Usher Syndrome ◽

Chinese Family ◽

Compound Heterozygous ◽

Syndrome Type ◽

Compound Heterozygous Mutations ◽

Usher Syndrome Type

Interim results of Transpher A, a multicenter, single-dose, phase 1/2 clinical trial of ABO-102 gene therapy for Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA)

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2019.11.129 ◽

2020 ◽

Vol 129 (2) ◽

pp. S56-S57 ◽

Cited By ~ 1

Author(s):

Kevin M. Flanigan ◽

Nicholas J.C. Smith ◽

Maria Luz Couce ◽

Kristen V. Truxal ◽

Kim L. McBride ◽

...

Keyword(s):

Clinical Trial ◽

Gene Therapy ◽

Single Dose ◽

Phase 1 ◽

Type A ◽

Syndrome Type ◽

Sanfilippo Syndrome ◽

Type Iiia ◽

Scoring Evaluation of the Natural Course of Mucopolysaccharidosis Type IIIA (Sanfilippo Syndrome Type A)

PEDIATRICS ◽

10.1542/peds.2007-0282 ◽

2007 ◽

Vol 120 (5) ◽

pp. e1255-e1261 ◽

Cited By ~ 74

Author(s):

A. Meyer ◽

K. Kossow ◽

A. Gal ◽

C. Muhlhausen ◽

K. Ullrich ◽

...

Keyword(s):

Type A ◽

Natural Course ◽

Syndrome Type ◽

Sanfilippo Syndrome ◽

Type Iiia ◽

Targeted next-generation sequencing identifies novel compound heterozygous mutations of DYNC2H1 in a fetus with short rib-polydactyly syndrome, type III

Clinica Chimica Acta ◽

10.1016/j.cca.2015.05.005 ◽

2015 ◽

Vol 447 ◽

pp. 47-51 ◽

Cited By ~ 12

Author(s):

Libin Mei ◽

Yanru Huang ◽

Qian Pan ◽

Wei Su ◽

Yi Quan ◽

...

Keyword(s):

Next Generation Sequencing ◽

Compound Heterozygous ◽

Syndrome Type ◽

Next Generation ◽

Type Iii ◽

Targeted Next Generation Sequencing ◽

Compound Heterozygous Mutations ◽

Short Rib Polydactyly Syndrome ◽

Generation Sequencing

Spinocerebellar Ataxia Type 28—Phenotypic and Molecular Characterization of a Family with Heterozygous and Compound-Heterozygous Mutations in AFG3L2

The Cerebellum ◽

10.1007/s12311-019-01036-2 ◽

2019 ◽

Vol 18 (4) ◽

pp. 817-822 ◽

Cited By ~ 4

Author(s):

Sinem Tunc ◽

Marija Dulovic-Mahlow ◽

Hauke Baumann ◽

Magdalena Khira Baaske ◽

Magdalena Jahn ◽

...

Keyword(s):

Molecular Characterization ◽

Spinocerebellar Ataxia ◽

Spinocerebellar Ataxia Type ◽

Compound Heterozygous ◽

Novel AP3B1 compound heterozygous mutations in a Japanese patient with Hermansky–Pudlak syndrome type 2

The Journal of Dermatology ◽

10.1111/1346-8138.15177 ◽

2019 ◽

Vol 47 (2) ◽

pp. 185-189 ◽

Cited By ~ 3

Author(s):

Takuro Nishikawa ◽

Ken Okamura ◽

Mizuki Moriyama ◽

Kenji Watanabe ◽

Atsuko Ibusuki ◽

...

Keyword(s):

Japanese Patient ◽

Compound Heterozygous ◽

Syndrome Type ◽

Hermansky Pudlak Syndrome ◽

Compound Heterozygous Mutations in 2 Siblings with Hermansky-Pudlak Syndrome Type 1 (HPS1)

Klinische Pädiatrie ◽

10.1055/s-0030-1249628 ◽

2010 ◽

Vol 222 (03) ◽

pp. 168-174 ◽

Cited By ~ 7

Author(s):

K. Sandrock ◽

I. Bartsch ◽

N. Rombach ◽

K. Schmidt ◽

L. Nakamura ◽

...

Keyword(s):

Compound Heterozygous ◽

Syndrome Type ◽

Hermansky Pudlak Syndrome ◽

Natural history of siblings with mucopolysaccharidosis type IIIA, Sanfilippo syndrome type A

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2016.11.127 ◽

2017 ◽

Vol 120 (1-2) ◽

pp. S57-S58

Author(s):

Alexandra Gossler ◽

Anja Koehn ◽

Ann Meyer ◽

Kai Kossow ◽

Kurt Ullrich ◽

...

Keyword(s):

Natural History ◽

Type A ◽

Syndrome Type ◽

Sanfilippo Syndrome ◽

Type Iiia ◽

History Of ◽