26 |
6506242684 |
Damayanti Rusli Sjarif |
Prof. Dr. dr. Damayanti Rusli Sjarif, SpA(K) |
Departemen Ilmu Kesehatan Anak |
Ilmu Kesehatan Anak (Sp-2) |
Variant identification of exon 11 of galactosamine (N-acetyl)-6-sulfatase (GALNS) gene in mucopolysaccharidosis type IVA patients in Indonesia |
Sulaiman R.A.R., Aji R.P., Prakoso N.M., Priambodo R., Aswin Y.A., Hafifah C.N., Sjarif D.R. |
AIP Conference Proceedings |
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291 |
6506242684 |
Damayanti Rusli Sjarif |
Prof. Dr. dr. Damayanti Rusli Sjarif, SpA(K) |
Departemen Ilmu Kesehatan Anak |
Ilmu Kesehatan Anak (Sp-2) |
Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency |
Coughlin C.R., II, Tseng L.A., Abdenur J.E., Ashmore C., Boemer F., Bok L.A., Boyer M., Buhas D., Clayton P.T., Das A., Dekker H., Evangeliou A., Feillet F., Footitt E.J., Gospe S.M., Jr., Hartmann H., Kara M., Kristensen E., Lee J., Lilje R., Longo N., Lunsing R.J., Mills P., Papadopoulou M.T., Pearl P.L., Piazzon F., Plecko B., Saini A.G., Santra S., Sjarif D.R., Stockler-Ipsiroglu S., Striano P., Van Hove J.L.K., Verhoeven-Duif N.M., Wijburg F.A., Zuberi S.M., van Karnebeek C.D.M. |
Journal of Inherited Metabolic Disease |
1 |
Q2 |
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