Sjarif, D.R.
67  Ergebnisse:
Personensuche X
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1

Mutation identification of unreported and reported mutation..:

Lestari, I C ; Priambodo, R ; Ariani, Y...
Journal of Physics: Conference Series.  1567 (2020)  3 - p. 032041 , 2020
 
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2

Liquid chromatography-tandem mass spectrometric analyses of..:

Kosen, D N ; Timan, I S ; Sjarif, D R
Journal of Physics: Conference Series.  1073 (2018)  - p. 032045 , 2018
 
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3

A Novel mutation in iduronate-2-sulfatase gene Exon 6 of an..:

Putri, A N K ; Priambodo, R ; Ariani, Y...
Journal of Physics: Conference Series.  1073 (2018)  - p. 032051 , 2018
 
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4

A novel silent mutation at exon 9 of iduronate-2-sulfatase ..:

Priambodo, R ; Ariani, Y ; Pangestika, Y...
Journal of Physics: Conference Series.  1073 (2018)  - p. 032069 , 2018
 
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5

Identification of novel variation in introns three and four..:

Purwanto, M F ; Widyaningrum, A R ; Priambodo, R...
Journal of Physics: Conference Series.  1073 (2018)  - p. 032073 , 2018
 
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6

Novel variations in Exon 4 of the iduronate 2-sulfatase gen..:

Purwanto, M F ; Priambodo, R ; Ariani, Y...
Journal of Physics: Conference Series.  1073 (2018)  - p. 032070 , 2018
 
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7

Variations on exon 3 of 6-pyruvoyl-tetrahydropterin synthas..:

Dewi, L M ; Priambodo, R ; Ariani, Y...
Journal of Physics: Conference Series.  1073 (2018)  - p. 032071 , 2018
 
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8

Mutational analysis of exon 4 of the 6-pyruvoyl-tetrahydrop..:

Putri, D C ; Priambodo, R ; Ariani, Y...
Journal of Physics: Conference Series.  1073 (2018)  - p. 032072 , 2018
 
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10

Isolated glycerol kinase deficiency and Fanconi anemia:

Sjarif, D.R. ; R�v�sz, T. ; de Koning, T.J....
American Journal of Medical Genetics.  99 (2001)  2 - p. 159-160 , 2001
 
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11

Isolated and contiguous glycerol kinase gene disorders: A r..:

Sjarif, D. R. ; Ploos van Amstel, J. K. ; Duran, M...
Journal of Inherited Metabolic Disease.  23 (2000)  6 - p. 529-547 , 2000
 
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12

Hyperketonaemia in glycerol kinase deficiency:

Sjarif, D. R. ; Dorland, L. ; Sperl, W....
Journal of Inherited Metabolic Disease.  23 (2000)  7 - p. 760-764 , 2000
 
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15

Consensus guidelines for the diagnosis and management of py..:

Coughlin II, Curtis R. ; Tseng, Laura A. ; Abdenur, Jose E....
Journal of Inherited Metabolic Disease.  44 (2020)  1 - p. 178-192 , 2020
 
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