- defective,
hyperglycinuria will be
present instead of iminoglycinuria.
These findings delineate iminoglycinuria as the
homozygous form of
hyperglycinuria, with...
-
Gastrointestinal disease Hepatomegaly Hyperammonemia Hyperglycinemia/
Hyperglycinuria Hypoglycemia Hypotonia Infections,
recurrent Ketonemia/
Ketonuria Kidney...
- tachycardia,
paroxysmal hypertension and seizures. It is ****ociated with
hyperglycinuria,
dominantly inherited microphthalmia and cataracts. It is
thought to...
-
increased release of PLAT; 612348; PLAT
Hyperglycinuria; 138500; SLC36A2
Hyperglycinuria; 138500; SLC6A19
Hyperglycinuria; 138500; SLC6A20 Hyper-IgD syndrome;...
-
Cavanaugh JA, Bröer A,
Rasko JE (December 2008). "Iminoglycinuria and
hyperglycinuria are
discrete human phenotypes resulting from
complex mutations in proline...
-
Cavanaugh JA, Bröer A,
Rasko JE (November 2008). "Iminoglycinuria and
hyperglycinuria are
discrete human phenotypes resulting from
complex mutations in proline...
- Cavanaugh, JA; Bröer, A; Rasko, JE (December 2008). "Iminoglycinuria and
hyperglycinuria are
discrete human phenotypes resulting from
complex mutations in proline...
-
Vanslambrouck JM,
Rodgers H, et al. (December 2008). "Iminoglycinuria and
hyperglycinuria are
discrete human phenotypes resulting from
complex mutations in proline...
