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114 results on '"Cluster C"'

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1. Changes in thyroid function parameters 3 months after allogeneic and autologous hematopoietic stem cell transplantation in children

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

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

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

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