JIMD Reports - Case and Research Reports, 2012/2 [electronic resource] /
Society for the Study of Inborn Errors of Metabolism.
SSIEM.editor.
JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.
Description based upon print version of record.
JIMD Reports - Case and Research Reports, 2012/2; Contents; Homocysteine Measurement in Dried Blood Spot for Neonatal Detection of Homocystinurias; Abstract; Introduction; Materials and Methods; Reagents; Samples; Experimental Conditions; Standards; Sample Preparation; Results; Discussion; Competing Interests; Funding; Ethical Approval; Guarantor; Contributorship; References; Galactokinase Deficiency in a Patient with Congenital Hyperinsulinism; Abstract; Introduction; Case History; Methods; Genetic Studies for ABCC8/KCNJ11 Mutations; Genetic Studies for Galactokinase; Enzymology
Galactokinase AssayGalactose-1-Phosphate Uridyl Transferase Assay; Results; Genetic Studies for CHI; Galactokinase; Enzymology; Discussion; Disclosure Summary; Precis; References; Heart Failure Due to Severe Hypertrophic Cardiomyopathy Reversed by Low Calorie, High Protein Dietary Adjustments in a Glycogen Storage Disease Type IIIa Patient; Abstract; Introduction; Case Report; Discussion; Synopsis; References; Unusual Cardiac "Masses" in a Newborn with Infantile Pompe Disease; Abstract; Introduction; Case Report; Discussion; One-Sentence Take-Home Message; References
The Use of Elevated Doses of Genistein-Rich Soy Extract in the Gene Expression-Targeted Isoflavone Therapy for Sanfilippo Disease PatientsAbstract; Introduction; Materials and Methods; Patients; Treatment and Assessment of Its Effects; Results and Discussion; Conflict of Interest; References; Pregnancy During Nitisinone Treatment for Tyrosinaemia Type I: First Human Experience; Abstract; Introduction; Materials and Methods; Case Report; Personal and Family History; Pregnancy Course; Neonatal Course; Discussion and Conclusions; A Concise, 1 Sentence Take-Home Message; References
Molybdenum Cofactor Deficiency: A New HPLC Method for Fast Quantification of S-Sulfocysteine in Urine and SerumAbstract; Introduction; Materials and Methods; Reagents; Chromatographic Conditions; Samples and Standard Preparation; Creatinine Analysis; Validation Procedure: Linearity and Calibration; Validation Procedure: Specificity; Validation Procedure: Limit of Detection and Limit of Quantification; Validation Procedure: Precision and Reproducibility; Validation Procedure: Recovery; Results and Discussion; Derivatization; Chromatography; Calibration, Precision, and Recovery
Analysis of Human SamplesConclusion; References; Adenine Phosphoribosyltransferase Deficiency: An Underdiagnosed Cause of Lithiasis and Renal Failure; Abstract; Introduction; Case Report; Discussion; Take-Home Message; References; Alkaptonuria: Leading to the Treasure in Exceptions; Abstract; William Bateson and His Influence: Treasure Your Exceptions; Epistasis and the Biochemical Genetics of Metabolic Processes; Alkaptonuria: A Disease Rather than a Biochemical Curiosity; Treatment: Alleviating the Effects of Alkaptonuria; Sharing Amongst Orphans in the Tyrosine Degradation Disorders
First Clinical Trials in Alkaptonuria
Includes bibliographical references.
JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.
Human genetics.
Metabolic diseases.
Pediatrics.
Human physiology.
Human Genetics.
Metabolic Diseases.
Pediatrics.
Human Physiology.
JIMD reports