Makaleler
26
Tümü (26)
SCI-E, SSCI, AHCI (26)
SCI-E, SSCI, AHCI, ESCI (26)
Scopus (26)
5. DIETARY MANAGEMENT AND GROWTH OF TETRAHYDROBIOPTERIN RESPONSIVE TURKISH PKU PATIENTS
JOURNAL OF INHERITED METABOLIC DISEASE
, cilt.35, 2012 (SCI-Expanded, Scopus)
6. MOLECULAR CHARACTERISATION OF BIOTINIDASE GENE MUTATIONS IN TURKISH PATIENTS; AN UPDATE OF THE RESULTS
JOURNAL OF INHERITED METABOLIC DISEASE
, cilt.35, 2012 (SCI-Expanded, Scopus)
7. ENZYME REPLACEMENT THERAPY (ERT)RESULTS OF PATIENTS WITH MUCOPOLYSACCHARIDOSIS TYPE II (HUNTER SYNDROME)
JOURNAL OF INHERITED METABOLIC DISEASE
, cilt.35, 2012 (SCI-Expanded, Scopus)
8. A PATIENT WITH PYRUVATE CARBOXYLASE DEFICIENCY AND NEMALINE RODS ON MUSCLE BIOPSY
JOURNAL OF INHERITED METABOLIC DISEASE
, cilt.35, 2012 (SCI-Expanded, Scopus)
11. PROPIONIC ACIDEMIA PRESENTING WITH PERSISTENT PULMONARY HYPERTENSION IN TWO NEONATES
JOURNAL OF INHERITED METABOLIC DISEASE
, cilt.35, 2012 (SCI-Expanded, Scopus)
12. SEVERE AZOTEMIA AND HYPERNATREMIC DEHYDRATION IN AN INFANT WITH PHENYLKETONURIA
JOURNAL OF INHERITED METABOLIC DISEASE
, cilt.35, 2012 (SCI-Expanded, Scopus)
13. ACUTE INTERMITTENT PORPHYRIA: STILL UNCALLED BY PHYSICIANS
JOURNAL OF INHERITED METABOLIC DISEASE
, cilt.35, 2012 (SCI-Expanded, Scopus)
16. HEMOPHAGOCYTOSIS IN THREE PATIENTS WITH ORGANIC ACIDEMIA INVOLVING PROPIONATE METABOLISM
JOURNAL OF INHERITED METABOLIC DISEASE
, cilt.34, 2011 (SCI-Expanded, Scopus)
17. MUTATION PROFILE OF BCKDHA, BCKDHB AND DBT GENES FOR MAPLE SYRUP URINE DISEASE IN TURKEY
JOURNAL OF INHERITED METABOLIC DISEASE
, cilt.33, 2010 (SCI-Expanded, Scopus)
18. SIX NOVEL MUTATIONS IN TURKISH PATIENTS WITH ISOVALERIC ACIDEMIA
JOURNAL OF INHERITED METABOLIC DISEASE
, cilt.33, 2010 (SCI-Expanded, Scopus)
19. THE SPECTRUM AND FREQUENCY OF ALDOLASE B GENE MUTATIONS IN TURKISH PATIENTS WITH HEREDITARY FRUCTOSE INTOLERANCE
JOURNAL OF INHERITED METABOLIC DISEASE
, cilt.33, 2010 (SCI-Expanded, Scopus)
20. A NOVEL MUTATION IN BETA KETOTHIOLASE DEFICIENCY
JOURNAL OF INHERITED METABOLIC DISEASE
, cilt.33, 2010 (SCI-Expanded, Scopus)
22. POLYNEUROPATHY AS THE MAIN PRESENTING SYMPTOM IN PDH DEFICIENCY
JOURNAL OF INHERITED METABOLIC DISEASE
, cilt.33, 2010 (SCI-Expanded, Scopus)
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