803 results on '"Santer R"'
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2. Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
3. Neurological Outcome in Screened Individuals with LCHAD/MTP Deficiency.
4. Stoffwechselerkrankungen
5. Glykogenspeicherkrankheiten
6. Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire
7. Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier
8. Spezifische Symptomkombination der chronischen Quecksilberintoxikation: Arterielle Hypertension, Entwicklungsregression und Automutilation
9. Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire
10. Homozygosity for a 3 bp-deletion in BOLA3 Causes a Severe Cardiac Phenotype in Early Childhood with Lethal Outcome
11. TMEM165 Deficiency: Postnatal Changes in Glycosylation
12. Konfirmationsdiagnostik bei Verdacht auf angeborene Stoffwechselkrankheiten aus dem Neugeborenenscreening
13. Glykogenspeicherkrankheiten
14. Genetische Defekte des Monosaccharidstoffwechsels
15. Neugeborenenscreening
16. Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients
17. Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients
18. Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines
19. Congenital disorders of glycosylation with defective fucosylation
20. Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines
21. Mutation analysis in 54 propionic acidemia patients
22. Propionic acidemia: neonatal versus selective metabolic screening
23. Radiometric, geometric, and image quality assessment of ALOS AVNIR-2 and PRISM sensors
24. Phenylalanine tolerance in three phenylketonuric women pregnant with fetuses of different genetic PKU status
25. Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop
26. Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop
27. Elevated serum biotinidase activity in hepatic glycogen storage disorders–A convenient biomarker
28. High bone mineral density in pycnodysostotic patients with a novel mutation in the propeptide of cathepsin K
29. Long-term effects of medical management on growth and weight in individuals with urea cycle disorders
30. Long-term effects of medical management on growth and weight in individuals with urea cycle disorders
31. Hip Morphology in Mucolipidosis Type II
32. A successive order of scattering code for solving the vector equation of transfer in the earth's atmosphere with aerosols
33. Decreased plasma concentration of von Willebrand factor antigen (VWF:Ag) in patients with glycogen storage disease type Ia
34. A new fluorimetric enzyme assay for the diagnosis of Niemann–Pick A/B, with specificity of natural sphingomyelinase substrate
35. Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency
36. Metabolische Kardiomyopathien
37. A secondary respiratory chain defect in a patient with Fanconi–Bickel syndrome
38. Tetrahydrobiopterin Responsiveness in Phenylketonuria. Two New Cases and a Review of Molecular Genetic Findings
39. Laboratory signs of activated coagulation are common in Henoch-Schönlein purpura
40. Angeborene Störungen des Glukosetransports
41. Fanconi-Bickel syndrome – the original patient and his natural history, historical steps leading to the primary defect, and a review of the literature
42. Fanconi–Bickel syndrome – A congenital defect of the liver-type facilitative glucose transporter
43. Development of the human Achilles tendon enthesis organ
44. Age-related changes in the morphology of preganglionic neurons projecting to the rat hypogastric ganglion
45. Adipose tissue at entheses: the innervation and cell composition of the retromalleolar fat pad associated with the rat Achilles tendon
46. Ageing reduces the number of vesicular glutamate transporter 2 containing immunoreactive inputs to identified rat pelvic motoneurons
47. Glucose metabolism and insulin secretion in a patient with ABCC8 mutation and Fanconi–Bickel syndrome caused by maternal isodisomy of chromosome 3
48. Bilateral nuclear cataracts as the first neonatal sign of Fanconi-Bickel syndrome
49. Neutrophil aggregates in a 13-year-old girl: a rare hematological phenomenon
50. Isolated defect of peroxisomal β-oxidation in a 16-year-old patient
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