| Description |
1 online resource (vii, 130 pages) : illustrations |
| Series |
JIMD reports, 2192-8304 ; v. 5 |
|
JIMD reports ; v. 5. 2192-8304
|
| Contents |
Homocysteine Measurement in Dried Blood Spot for Neonatal Detection of Homocystinurias -- Galactokinase Deficiency in a Patient with Congenital Hyperinsulinism -- Heart Failure Due to Severe Hypertrophic Cardiomyopathy Reversed by Low Calorie, High Protein Dietary Adjustments in a Glycogen Storage Disease Type IIIa Patient -- Unusual Cardiac "Masses" in a Newborn with Infantile Pompe Disease -- The Use of Elevated Doses of Genistein-Rich Soy Extract in the Gene Expression-Targeted Isoflavone Therapy for Sanfilippo Disease Patients -- Pregnancy During Nitisinone Treatment for Tyrosinaemia Type I: First Human Experience -- Molybdenum Cofactor Deficiency: A New HPLC Method for Fast Quantification of S-Sulfocysteine in Urine and Serum -- Adenine Phosphoribosyltransferase Deficiency: An Underdiagnosed Cause of Lithiasis and Renal Failure -- Alkaptonuria: Leading to the Treasure in Exceptions -- Chaperone-Like Therapy with Tetrahydrobiopterin in Clinical Trials for Phenylketonuria: Is Genotype a Predictor of Response? -- Riboflavin-Responsive Trimethylaminuria in a Patient with Homocystinuria on Betaine Therapy -- Successful Noninvasive Ventilation and Enzyme Replacement Therapy in an Adult Patient with Morbus Hunter -- Hyperargininemia: A Family with a Novel Mutation in an Unexpected Site -- A Rare Galactosemia Complication: Vitreous Hemorrhage -- Neonatal Cholestasis as Initial Manifestation of Type 2 Gaucher Disease: A Continuum in the Spectrum of Early Onset Gaucher Disease -- Clinical and Biochemical Profiles of Maple Syrup Urine Disease in Malaysian Children -- Severe Infusion Reactions to Fabry Enzyme Replacement Therapy: Rechallenge After Tracheostomy -- Infantile Progressive Hepatoencephalomyopathy with Combined OXPHOS Deficiency due to Mutations in the Mitochondrial Translation Elongation Factor Gene GFM1 -- Expanding the Spectrum of PMM2-CDG Phenotype -- The Ketogenic Diet Is Well Tolerated and Can Be Effective in Patients with Argininosuccinate Lyase Deficiency and Refractory Epilepsy |
| Summary |
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 |
| Analysis |
Medicine |
|
Human genetics |
|
Human physiology |
|
Metabolic diseases |
|
Pediatrics |
|
Biomedicine |
|
pediatrie |
|
paediatrics |
|
fysiologie |
|
physiology |
|
biomedische wetenschappen |
|
stofwisselingsstoornissen |
|
metabolic disorders |
|
humane genetica |
|
Medicine (General) |
|
Geneeskunde (algemeen) |
| Bibliography |
Includes bibliographical references |
| Subject |
Metabolism, Inborn errors of -- Case studies
|
|
Metabolism, Inborn errors of -- Research
|
|
Metabolism, Inborn errors of.
|
|
Metabolism, Inborn Errors
|
|
MEDICAL -- Endocrinology & Metabolism.
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MEDICAL -- Nutrition.
|
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Metabolism, Inborn errors of
|
| Genre/Form |
Case studies
|
|
Case studies.
|
|
Études de cas.
|
| Form |
Electronic book
|
| Author |
Society for the Study of Inborn Errors of Metabolism.
|
| ISBN |
9783642280962 |
|
364228096X |
|
3642280951 |
|
9783642280955 |
|
9783642280979 |
|
3642280978 |
|
