| Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision |
44 |
| Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy |
27 |
| Disorders affecting vitamin B-6 metabolism |
23 |
| Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients |
21 |
| Promises and pitfalls of untargeted metabolomics |
18 |
| Vitamin B- folate, and the methionine remethylation cycle-biochemistry, pathways, and regulation |
18 |
| International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up |
16 |
| Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations |
16 |
| 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 |
14 |
| An update on the genetics, clinical presentation, and pathomechanisms of human riboflavin transporter deficiency |
14 |
| Mitochondrial DNA mutation analysis from exome sequencing-A more holistic approach in diagnostics of suspected mitochondrial disease |
14 |
| Olipudase alfa for treatment of acid sphingomyelinase deficiency (ASMD): safety and efficacy in adults treated for 30 months |
13 |
| The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy |
12 |
| Disorders of riboflavin metabolism |
12 |
| New insights into human lysine degradation pathways with relevance to pyridoxine-dependent epilepsy due to antiquitin deficiency |
12 |
| Cerebral folate deficiency: Analytical tests and differential diagnosis |
12 |
| Recognizable phenotypes in CDG |
12 |
| Newborn screening for homocystinurias: Recent recommendations versus current practice |
12 |
| Medical and financial burden of acute intermittent porphyria |
11 |
| Hepatocellular carcinoma in Gaucher disease: an international case series |
11 |
| Pathophysiology of propionic and methylmalonic acidemias. Part 1: Complications |
11 |
| Carnosinase, diabetes mellitus and the potential relevance of carnosinase deficiency |
10 |
| Transcranial electrical stimulation (tES) mechanisms and its effects on cortical excitability and connectivity |
10 |
| Patterns, evolution, and severity of striatal injury in insidious- vs acute-onset glutaric aciduria type 1 |
10 |
| Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes |
10 |
| Argininosuccinic aciduria: Recent pathophysiological insights and therapeutic prospects |
10 |
| Isolated sulfite oxidase deficiency |
9 |
| Functional characterisation of peroxisomal beta-oxidation disorders in fibroblasts using lipidomics |
9 |
| Clinical glycomics for the diagnosis of congenital disorders of glycosylation |
9 |
| Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry |
8 |
| Pharmacokinetics, pharmacodynamics, and safety of moss-aGalactosidase A in patients with Fabry disease |
8 |
| Identification of a novel biomarker for pyridoxine-dependent epilepsy: Implications for newborn screening |
8 |
| Genetic defects of thiamine transport and metabolism: A review of clinical phenotypes, genetics, and functional studies |
8 |
| Biotin in metabolism, gene expression, and human disease |
8 |
| The clinical presentation of cobalamin-related disorders: From acquired deficiencies to inborn errors of absorption and intracellular pathways |
8 |
| Integration of genomics and metabolomics for prioritization of rare disease variants: a 2018 literature review |
8 |
| The efficacy of intracerebroventricular idursulfase-beta enzyme replacement therapy in mucopolysaccharidosis II murine model: heparan sulfate in cerebrospinal fluid as a clinical biomarker of neuropathology |
8 |
| Inborn errors of coenzyme A metabolism and neurodegeneration |
8 |
| Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disordersA successful strategy for clinical research of rare diseases |
8 |
| Synaptic energy metabolism and neuronal excitability, in sickness and health |
8 |
| Cerebrospinal fluid biogenic amines depletion and brain atrophy in adult patients with phenylketonuria |
8 |
| The neurological and psychological phenotype of adult patients with early-treated phenylketonuria: A systematic review |
8 |
| Medium-chain triglycerides supplement therapy with a low-carbohydrate formula can supply energy and enhance ammonia detoxification in the hepatocytes of patients with adult-onset type II citrullinemia |
8 |
| The impact of ammonia levels and dialysis on outcome in 202 patients with neonatal onset urea cycle disorders |
7 |
| Focus on fatty acids in the neurometabolic pathophysiology of psychiatric disorders |
7 |
| The functional genomics laboratory: functional validation of genetic variants |
7 |
| Role of protein carbonylation in diabetes |
7 |
| Unraveling the unknown areas of the human metabolome: the role of infrared ion spectroscopy |
7 |
| Insulin-resistance in glycogen storage disease type Ia: linking carbohydrates and mitochondria?Keywords |
7 |
| The diagnostic challenge in very-long chain acyl-CoA dehydrogenase deficiency (VLCADD) |
7 |
