Damayanti Rusli Sjarif

**Dr. dr. Damayanti R. Sjarif, Sp.A(K), ** () adolah pakar panyakik nutrisi jo metabolik anak bakewarganegaraan Indonesia.

Damayanti baprofesi sabagai dokter spesialis anak pado Bagian Nutrisi dan Penyakit Metabolik Departemen Ilmu Penyakit Anak FKUI/RSCM, Jakarta 

Sangkek SMP, Damayanti pernah manjadi murid teladan tingkek SMP se-Kodya Bandung jo Provinsi Jawa Barat pado 1974. Sasudah tamaik dari Fakultas Kedokteran Universitas Indonesia (FKUI) pado 1983, Damayanti ditugaskan di sabuah puskesmas daerah tapencil di Nusa Tenggara Timur (NTT). Karano kasungguhannyo dalam batugas, wanita Damayanti maraih panghargaan sabagai dokter teladan puskesmas.

Sasudah batugas di daerah, Damayanti malanjuikan studinyo dengan mangambiak pandidikan spesialis anak di FK UI Jakarta sarato pandidikan doktoral (S3) dalam bidang panyakik metabolik jo genetik di Universiteit Utrecht, Belanda, dengan disertasi bajudul *Glycerol kinase deficiency*.

Sajumlah panyakik metabolik pado anak yang inyo dalami antaro lain obesitas, malagizi, Morquio, phenylketonuria (PKU), asidosis tubulus renalis (RTA), Hyperketonaemia, sarato Citrulinemia. Mayoritas dari panyakik-panyakik yang dipelajarinyo marupoan panyakit langka.

## Hasil karya

* Sjarif DR, *Inborn errors of metabolism in Indonesia*, Journal of Inherited Metabolic Disease **29**: 25-25 Suppl. 1 Agustus 2006.
* Prawitasari T, Sjarif DR, *Clinical improvement after administration of carnitine and ubiquinone in possible respiratory chain disorders*, Journal of Inherited Metabolic Disease **29**: 116-116 Suppl. 1 Agustus 2006.
* Sudewi NP, Sjarif DR, *Metabolic acidosis and failure to thrive*, Journal of Inherited Metabolic Disease **29**: 121-121 Suppl. 1 AUG 2006
* Indawati W, Sjarif DR, *Intelligence impairment in Morquio syndrome type IVA: A case report*, Journal of Inherited Metabolic Disease **29**: 149-149 Suppl. 1 AUG 2006
* Sjarif DR, Hutapea E, *A Bataknese family of two siblings with Sanfilippo syndrome: First case report in Ciptomangunkusumo Hospital, Jakarta, Indonesia *, Journal of Inherited Metabolic Disease **29**: 149-149 Suppl. 1 Agustus 2006.
* Meilany TA, Prawitasari T, Sjarif DR, *A child with suspected Morquio syndrome: A challenge to established diagnosis*, Journal of Inherited Metabolic Disease **29**: 152-152 Suppl. 1 AUG 2006
* Damayanti R Sjarif, Christina Hellerud, Johannes K Ploos van Amstel, Willem J Kleijer, Wolfgang Sperl, Didier Lacombe, Jõrn Oliver Sass, Frits A Beemer, Marinus Duran and Bwee Tien Poll-The, *Glycerol kinase deficiency: residual activity explained by reduced transcription and enzyme conformation*, European Journal of Human Genetics, June 2004, Volume '''12''', Number 6, Pages 424-432
* Sjarif DR, Revesz T, de Koning TJ, et al. *Isolated glycerol kinase deficiency and Fanconi anemia*, American Journal of Medical Genetics **99** (2): 159-160 MAR 1 2001
* D. R. Sjarif, L. Dorland, W. Sperl, T. J. de Koning, F. A. Beemer, B. T. Poll-The und M. Duran, *Hyperketonaemia in glycerol kinase deficiency*, Journal of Inherited Metabolic Disease, Volume **23**, Number 7 / November 2000, DOI 10.1023/A:1005680211483
* Sjarif DR, Dorland L, Sperl W, et al., *Hyperketonaemia in glycerol kinase deficiency*, Journal of Inherited Metabolic Disease **23** (7): 760-764 NOV 2000
* Sjarif DR, van Amstel JKP, Duran M, et al., *Isolated and contiguous glycerol kinase gene disorders: A review*, Journal of Inherited Metabolic Disease **23** (6): 529-547 SEP 2000

## Referensi