PIGOmutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels

Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation

(2013) Bobby G. Ng et al.   AMERICAN JOURNAL OF HUMAN GENETICS

PGAP2 Mutations, Affecting the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation Syndrome

(2013) Peter M. Krawitz et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Hypomorphic Mutations in PGAP2, Encoding a GPI-Anchor-Remodeling Protein, Cause Autosomal-Recessive Intellectual Disability

(2013) Lars Hansen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

De Novo Mutations inSLC35A2Encoding a UDP-Galactose Transporter Cause Early-Onset Epileptic Encephalopathy

(2013) Hirofumi Kodera et al.   HUMAN MUTATION

Understanding Human Glycosylation Disorders: Biochemistry Leads the Charge

(2013) Hudson H. Freeze   JOURNAL OF BIOLOGICAL CHEMISTRY

De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

(2013) Hirotomo Saitsu et al.   NATURE GENETICS

Vitamin B6-responsive epilepsy due to inherited GPI deficiency

(2013) I. Kuki et al.   NEUROLOGY

Mutations in PIGO, a Member of the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation

(2012) Peter M. Krawitz et al.   AMERICAN JOURNAL OF HUMAN GENETICS

GPI-anchor remodeling: Potential functions of GPI-anchors in intracellular trafficking and membrane dynamics

(2012) Morihisa Fujita et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Neurology of inherited glycosylation disorders

(2012) Hudson H Freeze et al.   LANCET NEUROLOGY

Serum Alkaline Phosphatase Levels in Healthy Children and Evaluation of Alkaline Phosphatase z-scores in Different Types of Rickets

(2011) Serap Turan et al.   Journal of Clinical Research in Pediatric Endocrinology

Biosynthesis, Remodelling and Functions of Mammalian GPI-anchored Proteins: Recent Progress

(2008) T. Kinoshita et al.   JOURNAL OF BIOCHEMISTRY