Sentence examples similar to cdg cdg from inspiring English sources

67 GCS1-CDG (CDG-IIb ) (also known as MOGS-CDG (CDG-IIb )).

As in ALG3-CDG (CDG-Id) and ALG12-CDG (CDG-Ig), also caused by mannosyltransferase defects, microcephaly was rapidly progressive.

Further studies have shown that ALG1-CDG (CDG-Ik) and PMI-CDG (CDG-Ib) may be the most frequent after PMM2-CDG (CDG-Ia) and present at the severe end of the CDG I clinical spectrum.

Defects in either the synthesis of the dolichol phosphate [DPM1-CDG (CDG-Ie)], or in the transfer LEC35-CDG (CDG-If) result in clinical disease (see below).

20 Pubertal abnormalities have been described in an individual with ALG6-CDG (CDG-Ic).

21 Over 30 patients with ALG6-CDG (CDG-Ic) have been described.

2, 7 Adults with PMM2-CDG (CDG-Ia) have developmental delay, ataxia, peripheral neuropathy, scoliosis, and hypergonadotropic hypogonadism.

17– 19 The clinical presentation may be milder than in PMM2-CDG (CDG-Ia) and stroke-like episodes and peripheral neuropathy have not been reported.

156– 158 In some patients with PMI-CDG (CDG-Ib), heparin therapy can be an alternative to mannose in the treatment of the enteropathy.

PMI-CDG (CDG-Ib), which is characterized by hepatic-intestinal disease, is the only type of hypoglycosylation defect where a specific therapy exists.

A four-month-old female had moderate hepatomegaly, severe diarrhea, and hypoalbuminemia from protein-losing enteropathy, normal facial features, and normal development, similar to PMI-CDG (CDG-Ib).