@article {46,
	title = {Congenital nephrotic syndrome in an infant with ALG1-congenital disorder of glycosylation.},
	journal = {Pediatr Int},
	volume = {58},
	year = {2016},
	month = {2016 Aug},
	pages = {785-8},
	abstract = {<p>Congenital nephrotic syndrome (NS) in the newborn is most frequently related to mutations in genes specific for structural integrity of the glomerular basement membrane and associated filtration structures within the kidney, resulting in massive leakage of plasma proteins into the urine. Occurrence of congenital NS in a multi-system syndrome is less common. We describe the case of an infant with deteriorating neurological status, seizures, edema, and proteinuria who was found to have a mutation in gene ALG1 and a renal biopsy consistent with congenital NS. Furthermore, we briefly review rare existing case reports documenting congenital NS in patients with mutations in ALG1, and treatment strategies, including novel use of peritoneal dialysis.</p>},
	keywords = {Abnormalities, Multiple, Congenital Disorders of Glycosylation, DNA, DNA Mutational Analysis, Glycosylation, Humans, Infant, Newborn, Male, Mannosyltransferases, Mutation, Nephrotic Syndrome, Peritoneal Dialysis},
	issn = {1442-200X},
	doi = {10.1111/ped.12988},
	author = {Harshman, Lyndsay A and Ng, Bobby G and Freeze, Hudson H and Trapane, Pamela and Dolezal, Anna and Brophy, Patrick D and Brumbaugh, Jane E}
}
@article {134,
	title = {Expanding the Molecular and Clinical Phenotype of SSR4-CDG.},
	journal = {Hum Mutat},
	volume = {36},
	year = {2015},
	month = {2015 Nov},
	pages = {1048-51},
	abstract = {<p>Congenital disorders of glycosylation (CDG) are a group of mostly autosomal recessive disorders primarily characterized by neurological abnormalities. Recently, we described a single CDG patient with a de novo mutation in the X-linked gene, Signal Sequence Receptor 4 (SSR4). We performed whole-exome sequencing to identify causal variants in several affected individuals who had either an undifferentiated neurological disorder or unsolved CDG of unknown etiology based on abnormal transferrin glycosylation. We now report eight affected males with either de novo (4) or inherited (4) loss of function mutations in SSR4. Western blot analysis revealed that the mutations caused a complete loss of SSR4 protein. In nearly all cases, the abnormal glycosylation of serum transferrin was only slightly above the accepted normal cutoff range. </p>},
	keywords = {Calcium-Binding Proteins, Congenital Disorders of Glycosylation, DNA Mutational Analysis, Exome, Gene Order, Genes, X-Linked, Genetic Loci, Humans, Male, Membrane Glycoproteins, Mutation, Phenotype, Receptors, Cytoplasmic and Nuclear, Receptors, Peptide},
	issn = {1098-1004},
	doi = {10.1002/humu.22856},
	author = {Ng, Bobby G and Raymond, Kimiyo and Kircher, Martin and Buckingham, Kati J and Wood, Tim and Shendure, Jay and Nickerson, Deborah A and Bamshad, Michael J and Wong, Jonathan T S and Monteiro, Fabiola Paoli and Graham, Brett H and Jackson, Sheryl and Sparkes, Rebecca and Scheuerle, Angela E and Cathey, Sara and Kok, Fernando and Gibson, James B and Freeze, Hudson H}
}
