35 results on '"Mamunes, Peter"'
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2. Acid α-neuraminidase deficiency: a nephropathic phenotype?
3. Variability in a family with an insertion involving 5p
4. Centromeric dna break in a 10;16 reciprocal translocation associated with trisomy 16 confined placental mosaicism and maternal uniparental disomy for chromosome 16
5. Molecular, Clinical and Biochemical Characterization of a Mild Menkes Phenotype Associated with a Novel Missense Mutation (Ala1362Asp) in the ATP7A Copper Transport Gene. † 612
6. Holoprosencephaly in a newborn girl with 46,XX,i(18q)
7. Intellectual Deficits After Transient Tyrosinemia in the Term Neonate.
8. Hypercalcemia in Children with Disorders of Calcium and Phosphate Metabolism During Long-Term Treatment with 1,25-Dihydroxyvitamin-D[sub3].
9. Renal Hypophosphatemic Rickets: Growth Acceleration After Long-Term treatment with 1,25-Dihydroxyvitamin-D[sub3].
10. Acid α-neuraminidase deficiency: a nephropathic phenotype?
11. The pathology of Sandhoff's disease.
12. EARLY INTRAVENOUS FEEDING OF THE LOW BIRTH WEIGHT NEONATE.
13. AMPICILLIN TRIHYDRATE IN THE TREATMENT OF ACUTE OTITIS MEDIA IN CHILDREN*.
14. The rash associated with ampicillin therapy.
15. TRISOMY 17-18(E): STUDIES IN LONG-TERM SURVIVAL WITH REPORT OF TWO AUTOPSIED CASES.
16. Quantitative determination of C6:0-C18:3serum nonesterified fatty acids by gas-liquid chromatography
17. Treatment of Inborn Errors of Urea Synthesis - Activation of Alternative Pathways of Waste Nitrogen Synthesis and Excretion
18. Neonatal Screening Tests
19. Chondroectodermal Dysplasia: Ellis-Van Creveld Syndrome
20. Early Diagnosis of Neonatal Syphilis: Evaluation of a Gamma M-Fluorescent Treponemal Antibody Test
21. Ampicillin Compared to Other Antimicrobials in Acute Otitis Media
22. New Issues in Newborn Screening for Phenylketonuria and Congenital Hypthyroidism.
23. Newborn Screening Metabolic Disorders
24. Prenatal Diagnosis for Pediatricians
25. 429 INFANTILE HYPOGLYCEMIA DUE TO GLUCAGON DEFICIENCY
26. A new syndrome with features of the Smith‐Lemli‐Opitz and Meckel‐Gruber syndromes in a sibship with cerebellar defects
27. INTELLECTUAL DEFICITS AFTER TRANSIENT TYROSINEMIA IN TERM NEONATES
28. 698 THERAPY OF NEONATAL ONSET UREA CYCLE ENZYMOPATHIES, (UCE)
29. FATTY ACIDS IN REYE“S SYNDROME
30. Quantitative determination of C6:0-C18:3 serum nonesterified fatty acids by gas-liquid chromatography
31. Screening for Congenital Metabolic Disorders in the Newborn Infant: Congenital Deficiency of Thyroid Hormone and Hyperphenylalaninemia
32. Autosomal dominant inheritance of the Aarskog syndrome
33. Gonadal Dysgenesis Associated With a Multicystic Kidney
34. ACUTE LEUKÆMIA AND KLINEFELTER'S SYNDROME
35. Dietary management of phenylketonuria from birth using a phenylalanine-free product
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