Bobby G. Ng
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View article: Autosomal dominant HK1-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorder
Autosomal dominant HK1-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorder Open
HK1 should be included in mitochondrial disorder gene sequencing panels.
View article: Clinical and biochemical footprints of congenital disorders of glycosylation: Proposed nosology
Clinical and biochemical footprints of congenital disorders of glycosylation: Proposed nosology Open
We have identified 200 congenital disorders of glycosylation (CDG) caused by 189 different gene defects and have proposed a classification system for CDG based on the mode of action. This classification includes 8 categories: 1. Disorders …
View article: Biallelic missense variants in <scp><i>COG3</i></scp> cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking
Biallelic missense variants in <span><i>COG3</i></span> cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking Open
Biallelic variants in genes for seven out of eight subunits of the conserved oligomeric Golgi complex (COG) are known to cause recessive congenital disorders of glycosylation (CDG) with variable clinical manifestations. COG3 encodes a cons…
View article: Beyond genetics: Deciphering the impact of missense variants in <scp>CAD</scp> deficiency
Beyond genetics: Deciphering the impact of missense variants in <span>CAD</span> deficiency Open
CAD is a large, 2225 amino acid multienzymatic protein required for de novo pyrimidine biosynthesis. Pathological CAD variants cause a developmental and epileptic encephalopathy which is highly responsive to uridine supplements. CAD defici…
View article: Elevated oxysterol and <scp><i>N‐</i>palmitoyl‐<i>O</i>‐phosphocholineserine</scp> levels in congenital disorders of glycosylation
Elevated oxysterol and <span><i>N‐</i>palmitoyl‐<i>O</i>‐phosphocholineserine</span> levels in congenital disorders of glycosylation Open
Congenital disorders of glycosylation (CDG) and Niemann‐Pick type C (NPC) disease are inborn errors of metabolism that can both present with infantile‐onset severe liver disease and other multisystemic manifestations. Plasma bile acid and …
View article: Fractionated plasma N‐glycan profiling of novel cohort of <scp>ATP6AP1‐CDG</scp> subjects identifies phenotypic association
Fractionated plasma N‐glycan profiling of novel cohort of <span>ATP6AP1‐CDG</span> subjects identifies phenotypic association Open
ATP6AP1‐CDG is an X‐linked disorder typically characterized by hepatopathy, immunodeficiency, and an abnormal type II transferrin glycosylation pattern. Here, we present 11 new patients and clinical updates with biochemical characterizatio…
View article: Homozygous truncating variant in <i>MAN2A2</i> causes a novel congenital disorder of glycosylation with neurological involvement
Homozygous truncating variant in <i>MAN2A2</i> causes a novel congenital disorder of glycosylation with neurological involvement Open
Background Enzymes of the Golgi implicated in N-glycan processing are critical for brain development, and defects in many are defined as congenital disorders of glycosylation (CDG). Involvement of the Golgi mannosidase, MAN2A2 has not been…
View article: COG4 mutation in Saul-Wilson syndrome selectively affects secretion of proteins involved in chondrogenesis in chondrocyte-like cells
COG4 mutation in Saul-Wilson syndrome selectively affects secretion of proteins involved in chondrogenesis in chondrocyte-like cells Open
Saul-Wilson syndrome is a rare skeletal dysplasia caused by a heterozygous mutation in COG4 (p.G516R). Our previous study showed that this mutation affected glycosylation of proteoglycans and disturbed chondrocyte elongation and intercalat…
View article: <scp>DDOST‐CDG</scp>: Clinical and molecular characterization of a third patient with a milder and a predominantly movement disorder phenotype
<span>DDOST‐CDG</span>: Clinical and molecular characterization of a third patient with a milder and a predominantly movement disorder phenotype Open
Congenital disorders of glycosylation (CDG) are a group of heterogeneous inherited metabolic disorders affecting posttranslational protein modification. DDOST‐CDG, caused by biallelic pathogenic variants in DDOST which encodes dolichyl‐dip…
View article: The Swedish<scp>COG6‐CDG</scp>experience and a comprehensive literature review
The Swedish<span>COG6‐CDG</span>experience and a comprehensive literature review Open
Here, we present the first two Swedish cases of Conserved Oligomeric Golgi complex subunit 6‐congenital disorders of glycosylation (COG6‐CDG). Their clinical symptoms include intellectual disability, Attention Deficit/Hyperactivity Disorde…
View article: Origin of cytoplasmic GDP-fucose determines its contribution to glycosylation reactions
Origin of cytoplasmic GDP-fucose determines its contribution to glycosylation reactions Open
Biosynthesis of macromolecules requires precursors such as sugars or amino acids, originating from exogenous/dietary sources, reutilization/salvage of degraded molecules, or de novo synthesis. Since these sources are assumed to contribute …
View article: A recurrent homozygous missense <scp><i>DPM3</i></scp> variant leads to muscle and brain disease
A recurrent homozygous missense <span><i>DPM3</i></span> variant leads to muscle and brain disease Open
Biallelic pathogenic variants in the genes encoding the dolichol‐phosphate mannose synthase subunits ( DPM ) which produce mannosyl donors for glycosylphosphatidylinositols, N ‐glycan and protein O ‐ and C ‐mannosylation, are rare causes o…
View article: Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation
Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation Open
Purpose To summarise the clinical, molecular and biochemical phenotype of mannosyl-oligosaccharide glucosidase-related congenital disorders of glycosylation (MOGS-CDG), which presents with variable clinical manifestations, and to analyse w…
View article: <scp>ALG8‐CDG</scp>: Molecular and phenotypic expansion suggests clinical management guidelines
<span>ALG8‐CDG</span>: Molecular and phenotypic expansion suggests clinical management guidelines Open
Congenital disorders of glycosylation are a continuously expanding group of monogenic disorders of glycoprotein and glycolipid glycan biosynthesis. These disorders mostly manifest with multisystem involvement. Individuals with ALG8‐CDG com…
View article: CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking
CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking Open
The transmembrane domain recognition complex (TRC) pathway is required for the insertion of C-terminal tail-anchored (TA) proteins into the lipid bilayer of specific intracellular organelles such as the endoplasmic reticulum (ER) membrane.…
View article: Serum #8.qgd
Serum #8.qgd Open
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View article: Serum #12.CDF
Serum #12.CDF Open
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View article: Serum #20.CDF
Serum #20.CDF Open
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View article: Serum #11.qgd
Serum #11.qgd Open
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View article: Serum #1.CDF
Serum #1.CDF Open
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View article: Serum #18.CDF
Serum #18.CDF Open
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View article: Serum #2.qgd
Serum #2.qgd Open
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View article: Serum #10.qgd
Serum #10.qgd Open
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View article: Serum #14.CDF
Serum #14.CDF Open
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View article: Serum #8.CDF
Serum #8.CDF Open
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View article: Serum #9.CDF
Serum #9.CDF Open
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