International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12024
Pegunigalsidase alfa, a novel PEGylated enzyme replacement therapy for Fabry disease, provides sustained plasma concentrations and favorable pharmacodynamics: A 1‐year Phase 1/2 clinical trial
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12080
Mitochondrial DNA mutation analysis from exome sequencing—A more holistic approach in diagnostics of suspected mitochondrial disease
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12109
Clinical, neuroradiological, and biochemical features of SLC35A2‐CDG patients
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12055
Synaptic energy metabolism and neuronal excitability, in sickness and health
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12071
The diagnosis of inborn errors of metabolism by an integrative “multi‐omics” approach: A perspective encompassing genomics, transcriptomics, and proteomics
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12130
Genetic defects of thiamine transport and metabolism: A review of clinical phenotypes, genetics, and functional studies
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12125
Pathophysiology of propionic and methylmalonic acidemias. Part 2: Treatment strategies
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12128
Mutations in the translocon‐associated protein complex subunit SSR3 cause a novel congenital disorder of glycosylation
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12091
Quantitative natural history characterization in a cohort of 142 published cases of patients with galactosialidosis—A cross‐sectional study
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12010
Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea‐cycle disorders: On the basis of information from a European multicenter registry
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12066
Ultra‐orphan lysosomal storage diseases: A cross‐sectional quantitative analysis of the natural history of alpha‐mannosidosis
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12138
Bone development and remodeling in metabolic disorders
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12097
Patterns, evolution, and severity of striatal injury in insidious‐ vs acute‐onset glutaric aciduria type 1
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12033
Performance of laboratory tests used to measure blood phenylalanine for the monitoring of patients with phenylketonuria
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12163
Choline‐related‐inherited metabolic diseases—A mini review
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12011
A study on a cohort of 301 Chinese patients with isolated methylmalonic acidemia
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12183
Brain imaging in classic nonketotic hyperglycinemia: Quantitative analysis and relation to phenotype
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12072
Structural analysis of pathogenic mutations targeting Glu427 of ALDH7A1, the hot spot residue of pyridoxine‐dependent epilepsy
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12184
Increased risk of sudden death in untreated primary carnitine deficiency
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12158
TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12149
A constitutive knockout of murine carbamoyl phosphate synthetase 1 results in death with marked hyperglutaminemia and hyperammonemia
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12048
Liver neoplasms in methylmalonic aciduria: An emerging complication
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12143
Dietary restriction of tyrosine and phenylalanine lowers tyrosinemia associated with nitisinone therapy of alkaptonuria
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12172
Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine β‐synthase deficient homocystinuria and the impact of taurine treatment in a phase 1/2 human clinical trial
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12085
The 1‐13C galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12207
Detailed profile of cognitive dysfunction in children with aspartylglucosaminuria
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12159
Combining newborn metabolic and genetic screening for neonatal intrahepatic cholestasis caused by citrin deficiency
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12206
Maternal glutamine supplementation in murine succinic semialdehyde dehydrogenase deficiency, a disorder of γ‐aminobutyric acid metabolism
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12107
Hepatic symptoms and histology in 13 patients with a Zellweger spectrum disorder
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12132
Reduced CETP glycosylation and activity in patients with homozygous B4GALT1 mutations
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12200
Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi‐Bickel syndrome
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12203
Early neurodevelopmental characterization in children with cobalamin C/defect
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12171
Central nervous system complications in adult cystinosis patients
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12164
Proposal for a simplified classification of IMD based on a pathophysiological approach: A practical guide for clinicians
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12086
Neurochemical abnormalities in patients with type 1 Gaucher disease on standard of care therapy
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12182
AAV9 gene replacement therapy for respiratory insufficiency in very‐long chain acyl‐CoA dehydrogenase deficiency
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12101
Galactose 1‐phosphate accumulates to high levels in galactose‐treated cells due to low GALT activity and absence of product inhibition of GALK
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12198
Implementation of a fast method for the measurement of carnitine palmitoyltransferase 2 activity in lymphocytes by tandem mass spectrometry as confirmation for newborn screening
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12098
Inborn errors of enzymes in glutamate metabolism
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12180
Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12036
A high prevalence of arterial hypertension in patients with mitochondrial diseases
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12195
Fetal bovine serum impacts the observed N‐glycosylation defects in TMEM165 KO HEK cells
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12161
Comprehensive characterization of ureagenesis in the spfash mouse, a model of human ornithine transcarbamylase deficiency, reveals age‐dependency of ammonia detoxification
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12068
Functional disruption of pyrimidine nucleoside transporter CNT1 results in a novel inborn error of metabolism with high excretion of uridine and cytidine
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12081
Allogeneic hematopoietic cell transplantation in Farber disease
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12043
Cornstarch requirements of the adult glycogen storage disease Ia population: A retrospective review
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12160
The effectiveness of enzyme replacement therapy for juvenile‐onset Pompe disease: A systematic review
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12027
GLUT1DS and the ketogenic diet.
来源期刊:Journal of inherited metabolic diseaseDOI:10.1002/jimd.12175
Neuropsychological attributes of urea cycle disorders: A systematic review of the literature
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12146