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Description
To establish a connection with the NO-system, l-NAME (5 mg/kg intraperitoneally) (worsening) and/or L-arginine (100 mg/kg intraperitoneally) (beneficial effect) were given alone or together
Thirty-six patients from 31 families with molecularly confirmed spondylodysplastic EDS due to B4GALT7 -deficiency with a total of 13 different variants have been reported so far (Table 2) [8, 12,13,14,15,16,17,18,19,20,21,22,23,24]

80% of patients with MTHFR deficiency have levels below the Japanese level of 500 p/molL

A.WalwynW.NozakiC.FilliolD.ErbsE.MatifasA.et al
