JIMD Reports - Volume 10Johannes Zschocke, K Michael Gibson, Garry Brown, Eva Morava, Verena Peters Springer Science & Business Media, 12/03/2013 - 123 من الصفحات 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. |
المحتوى
| 1 | |
A Mutation Update in an African Population | 11 |
NDUFS8related Complex I Deficiency Extends Phenotype from PEO Plus to Leigh Syndrome | 17 |
Accuracy of Six Anthropometric Skinfold Formulas Versus Air Displacement Plethysmography for Estimating Percent Body Fat in Female Adolesce... | 23 |
Noncompaction of the Ventricular Myocardium and Hydrops Fetalis in Cobalamin C Disease | 32 |
Primary Carnitine OCTN2 Deficiency Without Neonatal Carnitine Deficiency | 39 |
Liver Cirrhosis Should Be Ruled Out Prior to Bone Marrow Transplantation | 41 |
A Descriptive Study of Four Cases | 45 |
Simple Fast and Simultaneous Detection of Plasma Total Homocysteine Methylmalonic Acid Methionine and 2Methylcitric Acid Using Liquid Chro... | 69 |
An Exceptional Family with Three Consecutive Generations Affected by Wilson Disease | 79 |
SightThreatening Phenylketonuric Encephalopathy in a Young Adult Reversed by Diet | 83 |
Cardiac Ultrasound Findings in Infants with Severe Hurler Phenotype Untreated Mucopolysaccharidosis MPS Type I | 86 |
Analysis of the Stability and Function of the Mutant ABCD1 Protein
| 95 |
LongTerm Followup of a Successfully Treated Case of Congenital PyridoxineDependent Epilepsy | 103 |
An Unusual Presentation and a Novel Mutation | 107 |
Experience with Two Patients | 113 |
A Case Report | 53 |
Report of a Case | 57 |
Detection by Urinary GAG Testing of Mucopolysaccharidosis Type II in an AtRisk Spanish Population | 61 |
Fatal and Unanticipated Cardiorespiratory Disease in a TwoYearOld Child with Hurler Syndrome Following Successful Stem Cell Transplant
| 118 |
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عبارات ومصطلحات مألوفة
2012/Published online 2MCA ABCD1 ABCD1 protein acidemia adolescents adrenoleukodystrophy allele amino acid analysis anthropometric aortic assessment ATP7B b-oxidation BH4 supplementation bilateral biochemical birth body composition body fat Braunlin CADDS fibroblasts cardiac cardiomyopathy carnitine cblC Child CHIT1 chito chitotriosidase Clin clinical cobalamin cognitive Competing interests detected DHPR deficiency diagnosis diet disorders elevated Emiratis enzyme replacement therapy exon female fibroblasts follow-up galactosemia homozygous HSCT Hunter syndrome infants Inherit Metab Krabbe disease left ventricular levels liver LVNC metabolic methylmalonic methylmalonic acidemia mitochondrial mitral MMACHC mMol/l MNGIE MSUD mucopolysaccharidosis mucopolysaccharidosis type mutant ABCD1 mutations neonatal neurological newborn screening normal OMIM patients Pediatr percent BF percentile peroxisomal Peterson’s phenotype phenylalanine phenylketonuria phonological awareness plasma present prevalence primary carnitine deficiency pyridoxine reported seizures SSIEM and Springer-Verlag symptoms Table tHcy treatment urine valve Wilson disease X-ALD Z-score