User profiles for "author:Andreas Gal"

Andreas Gal

Mozilla
Verified email at uci.edu
Cited by 2788

Molecular genetics of muccpolysaccharidosis type I: Diagnostic, clinical, and biological implications

HS Scott, S Bunge, A Gal, LA Clarke… - Human …, 1995 - Wiley Online Library
Abstract Mucopolysaccharidosis type I (MPS‐I) is an autosomal recessive disease caused
by mutations in the α‐L‐iduronidase (IDUA) gene. These mutations lead to a deficiency of …

Vitamin A metabolism in the retinal pigment epithelium: genes, mutations, and diseases

DA Thompson, A Gal - Progress in retinal and eye research, 2003 - Elsevier
Mutations in the genes necessary for the metabolism of vitamin A (all-trans retinol) and
cycling of retinoids between the photoreceptors and retinal pigment epithelium (RPE)(the …

Mucopolysaccharidosis type II in females: case report and review of literature

K Tuschl, A Gal, E Paschke, S Kircher, OA Bodamer - Pediatric neurology, 2005 - Elsevier
Mucopolysaccharidosis type II (Hunter disease, iduronate-2-sulfatase deficiency) was
diagnosed in a 4-year-old female by demonstrating low iduronate-2-sulfatase activity both in …

Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa

A Gal, Y Li, DA Thompson, J Weir, U Orth… - Nature …, 2000 - nature.com
Mutation of a receptor tyrosine kinase gene, Mertk, in the Royal College of Surgeons (RCS)
rat 1 results in defective phagocytosis of photoreceptor outer segments by the retinal …

Mutations in RPE65 cause autosomal recessive childhood–onset severe retinal dystrophy

S Gu, DA Thompson, CRS Srikumari, B Lorenz… - Nature …, 1997 - nature.com
Autosomal recessive childhood-onset severe retinal dystrophy (arCSRD) designates a
heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously1 …

Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D

H Bolz, B von Brederlow, A Ramírez, EC Bryda… - Nature …, 2001 - nature.com
Usher syndrome type I (USH1) is an autosomal recessive disorder characterized by
congenital sensorineural hearing loss, vestibular dysfunction and visual impairment due to …

A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C

E Verpy, M Leibovici, I Zwaenepoel, XZ Liu, A Gal… - Nature …, 2000 - nature.com
Abstract Usher syndrome type 1 (USH1) is an autosomal recessive sensory defect involving
congenital profound sensorineural deafness, vestibular dysfunction and blindness (due to …

Trace-based just-in-time type specialization for dynamic languages

A Gal, B Eich, M Shaver, D Anderson, D Mandelin… - ACM Sigplan …, 2009 - dl.acm.org
Dynamic languages such as JavaScript are more difficult to compile than statically typed
ones. Since no concrete type information is available, traditional compilers need to emit …

AspectC++ an aspect-oriented extension to the C++ programming language

O Spinczyk, A Gal, W Schröder-Preikschat - Proceedings of the Fortieth …, 2002 - dl.acm.org
Small embedded systems are forced to operate under extreme resource constraints. At the
same time these systems are very complex and many concerns in the implementation of …

Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness

NT Bech-Hansen, MJ Naylor, TA Maybaum… - Nature …, 2000 - nature.com
During development, visual photoreceptors, bipolar cells and other neurons establish
connections within the retina enabling the eye to process visual images over approximately …