114 results on '"Cluster C"'
Search Results
2. Thyroid Profile in the First Three Months after Starting Treatment in Children with Newly Diagnosed Cancer
3. Thyroid dysfunction during treatment with systemic antineoplastic therapy for childhood cancer: a systematic review
4. Familial Male-Limited Precocious Puberty (FMPP) and Testicular Germ Cell Tumors
5. Multidisciplinary integrated care pathway for von Hippel–Lindau disease
6. Correction: Lebbink et al. Opposite Incidence Trends for Differentiated and Medullary Thyroid Cancer in Young Dutch Patients over a 30-Year Time Span. Cancers 2021, 13, 5104.: Lebbink et al. Opposite Incidence Trends for Differentiated and Medullary Thyroid Cancer in Young Dutch Patients over a 30-Year Time Span. (Cancers 2021, 13, 5104)
7. Is There a Role for Biomarkers in Surveillance of Pancreatic Neuroendocrine Neoplasms in Von Hippel-Lindau Disease?
8. Growth Patterns in Children With Multiple Endocrine Neoplasia Type 2B: Small Stature in Childhood
9. Opposite incidence trends for differentiated and medullary thyroid cancer in young dutch patients over a 30‐year time span
10. Initiating Pancreatic Neuroendocrine Tumor (pNET) Screening in Young MEN1 Patients: results from the DutchMEN Study Group
11. Children with multiple endocrine neoplasia type 2B: Not tall and marfanoid, but short with normal body proportions
12. Timely diagnosis of multiple endocrine neoplasia 2B by identification of intestinal ganglioneuromatosis: a case series
13. Untargeted metabolomics for metabolic diagnostic screening with automated data interpretation using a knowledge-based algorithm
14. Correction: Aminoacyl-tRNA synthetase deficiencies in search of common themes
15. Quantifying lymphocyte vacuolization serves as a measure of CLN3 disease severity
16. Hurdles in treating Hurler disease: Potential routes to achieve a 'real' cure
17. The c.1A > C start codon mutation in CLN3 is associated with a protracted disease course
18. HEARING LOSS IN PATIENTS WITH MUCOPOLYSACCHARIDOSES-1 AND -6 AFTER HEMATOPOIETIC CELL TRANSPLANTATION; a longitudinal analysis
19. Cross-omics: Integrating genomics with metabolomics in clinical diagnostics
20. Clues for genetic anticipation in Multiple Endocrine Neoplasia type 1
21. Understanding acute metabolic decompensation in propionic and methylmalonic acidemias: A deep metabolic phenotyping approach
22. Longitudinal Analysis of Ocular Disease in Children with Mucopolysaccharidosis I after Hematopoietic Cell Transplantation
23. Metabolic fingerprinting reveals extensive consequences of GLS hyperactivity
24. Glucose transporter type 1 deficiency syndrome and the ketogenic diet
25. Metachromatic leukodystrophy and transplantation: remyelination, no cross-correction
26. Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction
27. Accurate discrimination of Hartnup disorder from other aminoacidurias using a diagnostic ratio
28. Hypothesis: determining phenotypic specificity facilitates understanding of pathophysiology in rare genetic disorders
29. Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: what to aim, expect and evaluate from newborn screening?
30. Inborn errors of enzymes in glutamate metabolism
31. Clinical Relevance of Genetic Analysis in Patients With Pituitary Adenomas: A Systematic Review
32. A narrative review of factors associated with the development and progression of non-alcoholic fatty liver disease
33. Pathophysiology of propionic and methylmalonic acidemias. Part 2: Treatment strategies
34. Pathophysiology of propionic and methylmalonic acidemias. Part 1: Complications
35. Glutaminase deficiency caused by short tandem repeat expansion in GLS
36. Synapse alterations precede neuronal damage and storage pathology in a human cerebral organoid model of CLN3-juvenile neuronal ceroid lipofuscinosis
37. Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients
38. Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients
39. Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission
40. Aminoacyl-tRNA synthetase deficiencies in search of common themes
41. Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation
42. Increasing the dose of oral vitamin K prophylaxis and its effect on bleeding risk
43. Biallelic Variants in ASNA1, Encoding a Cytosolic Targeting Factor of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric Cardiomyopathy
44. De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia
45. Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy
46. IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
47. Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes
48. Direct-infusion based metabolomics unveils biochemical profiles of inborn errors of metabolism in cerebrospinal fluid
49. Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay
50. Treatment of thoracolumbar kyphosis in patients with mucopolysaccharidosis type I: Results of an international consensus procedure
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.