234 results on '"Korman, Stanley H."'
Search Results
2. Clues and challenges in the diagnosis of intermittent maple syrup urine disease
3. Hereditary orotic aciduria identified by newborn screening
4. Addition of galactose‐1‐phosphate measurement enhances newborn screening for classical galactosemia
5. Newly identified disorder of copper metabolism caused by variants in CTR1, a high-affinity copper transporter
6. Phenotypic Variability (Heterogeneity) of Peroxisomal Disorders
7. Addition of galactose‐1‐phosphate measurement enhances newborn screening for classical galactosemia.
8. IDH2 Mutations in Patients with D-2-Hydroxyglutaric Aciduria
9. Estimation of Glucose Carbon Recycling in Children with Glycogen Storage Disease: A 13 C NMR Study Using [U- 13 C]glucose
10. Severe Methylenetetrahydrofolate Reductase Deficiency: Clinical Clues to a Potentially Treatable Cause of Adult-Onset Hereditary Spastic Paraplegia
11. A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 °C
12. A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in Jerusalem
13. The role of orotic acid measurement in routine newborn screening for urea cycle disorders
14. Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter
15. Metabolic heart failure
16. A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling usher syndrome in the affected parents
17. TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome
18. Case 2: A 2-month-old Girl with Liver Failure and a Brother with Tyrosinemia Type I
19. Acute Normoglycemic Ketoacidosis
20. An Overview of L-2-Hydroxyglutarate Dehydrogenase Gene (L2HGDH) Variants: A Genotype–Phenotype Study
21. Evidence for Genetic Heterogeneity in d-2-Hydroxyglutaric Aciduria
22. Ten Novel HMGCL Mutations in 24 Patients of Different Origin with 3-Hydroxy-3-Methyl-Glutaric Aciduria
23. Experiences regarding nutrition and exercise among women during early postpartum: a qualitative grounded theory study
24. Hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome with evidence of mitochondrial dysfunction due to a novel SLC25A15 ( ORNT1) gene mutation in a Palestinian family
25. Multiple Hepatic Lesions in a Girl with Tyrosinemia: Not Always Hepatocellular Carcinoma
26. Henoch–Schönlein Purpura: Simultaneous Occurrence in Two Siblings
27. The role of orotic acid measurement in routine newborn screening for urea cycle disorders.
28. Argininemia, Hyperornithinemia, and 3-Hydroxyisovaleric Aciduria
29. The duodenal string test
30. Mudd's disease (MAT I/III deficiency) : a survey of data for MAT1A homozygotes and compound heterozygotes
31. Pica as a presenting symptom in childhood celiac disease
32. Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes
33. Giardia Lamblia: New Outlooks1
34. IDH2 mutations in patients with D-2-hydroxyglutaric aciduria
35. An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study
36. Agenesis of corpus callosum and optic nerve hypoplasia due to mutations inSLC25A1encoding the mitochondrial citrate transporter
37. Enzymatic activity of methionine adenosyltransferase variants identified in patients with persistent hypermethioninemia
38. l-arginine:glycine amidinotransferase (AGAT) deficiency: Clinical presentation and response to treatment in two patients with a novel mutation
39. Severe Infantile Carnitine Palmitoyltransferase II Deficiency in 19-Week Fetal Sibs
40. Ten novelHMGCLmutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria
41. Mutations in the Fatty Acid 2-Hydroxylase Gene Are Associated with Leukodystrophy with Spastic Paraparesis and Dystonia
42. PNPO deficiency: An under diagnosed inborn error of pyridoxine metabolism
43. Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin
44. Diagnosis of Nonketotic Hyperglycinemia in Patients Treated with Valproic Acid
45. HSD17B10 replaces HADH2 as the approved designation for the gene mutated in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
46. Glutaric aciduria type 1: Clinical, biochemical and molecular findings in patients from Israel
47. Pitfalls in the diagnosis of glycine encephalopathy (non-ketotic hyperglycinemia)
48. REMOVED: Short-chain acyl-CoA dehydrogenase gene mutation (319 C>T) presents with clinical heterogeneity and is candidate founder mutation in Ashkenazi Jewish population
49. Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes.
50. Inborn errors of isoleucine degradation: A review
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