Damayanti Rusli Sjarif

DR.Dr. Damayanti R. Sjarif, SpA(K), dokter spesialis anak pada Bagian Nutrisi dan Penyakit Metabolik Departemen Ilmu Penyakit Anak FKUI/RSCM. Meraih gelar doktor (S3) dalam bidang penyakit metabolik dan genetik di Universiteit Utrecht, Belanda. Saat ini menjadi tenaga pengajar pada FKUI dan dokter ahli di RSCM.

Sejumlah penyakit metabolik pada anak yang tengah dia tangani kini antara lain: obesitas (kegemukan), malnutrisi, serta asidosis tubulus renalis.

Hasil karya

• 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

• 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, Inborn errors of metabolism in Indonesia, Journal of Inherited Metabolic Disease 29: 25-25 Suppl. 1 AUG 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 AUG 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 AUG 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

• 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

• 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