Molecular Genetics and Metabolism Reports

Papers
(The median citation count of Molecular Genetics and Metabolism Reports is 1. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2020-11-01 to 2024-11-01.)
ArticleCitations
SLC35A2-CDG: Novel variant and review14
Long-term follow-up of renal function in patients treated with migalastat for Fabry disease13
A novel COQ7 mutation causing primarily neuromuscular pathology and its treatment options13
Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database13
Four patients with D-bifunctional protein (DBP) deficiency: Expanding the phenotypic spectrum of a highly variable disease10
Development of a practical dietitian road map for the nutritional management of phenylketonuria (PKU) patients on pegvaliase10
The fate of orally administered sialic acid: First insights from patients with N-acetylneuraminic acid synthase deficiency and control subjects10
L-Fucose treatment of FUT8-CDG10
Variable clinical features of patients with Fabry disease and outcome of enzyme replacement therapy9
In vitro and in vivo effects of Ambroxol chaperone therapy in two Italian patients affected by neuronopathic Gaucher disease and epilepsy9
Long-term follow-up of acute porphyria in female patients: Update of clinical outcome and life expectancy9
Newborn screening for Pompe disease in Italy: Long-term results and future challenges9
High frequency of biotinidase deficiency in Italian population identified by newborn screening9
Plasma lyso-sphingomyelin levels are positively associated with clinical severity in acid sphingomyelinase deficiency9
Early clinical signs and treatment of Menkes disease8
Long-term outcome of patients with alpha-mannosidosis – A single center study8
Altered visual functions, macular ganglion cell and papillary retinal nerve fiber layer thickness in early-treated adult PKU patients8
Newborn screening for carnitine transporter defect in Bavaria and the long-term follow-up of the identified newborns and mothers: Assessing the benefit and possible harm based on 19 ½ years of experie8
α-Gal A missense variants associated with Fabry disease can lead to ER stress and induction of the unfolded protein response8
Examination of a blood-brain barrier targeting β-galactosidase-monoclonal antibody fusion protein in a murine model of GM1-gangliosidosis8
Reduced α-galactosidase A activity in zebrafish (Danio rerio) mirrors distinct features of Fabry nephropathy phenotype8
A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III8
Reduced macular thickness and macular vessel density in early-treated adult patients with PKU7
Newborn screening for spinal muscular atrophy in Japan: One year of experience7
Co-therapy with S-adenosylmethionine and nicotinamide riboside improves t-cell survival and function in Arts Syndrome (PRPS1 deficiency)7
Physical, cognitive, and social status of patients with urea cycle disorders in Japan7
The juvenile gangliosidoses: A timeline of clinical change7
A phase 1/2 open label nonrandomized clinical trial of intravenous 2-hydroxypropyl-β-cyclodextrin for acute liver disease in infants with Niemann-Pick C17
Multigenerational case examples of hypophosphatasia: Challenges in genetic counseling and disease management7
Spinal cerebrotendinous xanthomatosis: A case report and literature review7
Favorable outcomes following early onset oral miglustat in early infantile Niemann Pick Type C7
Generation of an in vitro model for peripheral neuropathy in Fabry disease using CRISPR-Cas9 in the nociceptive dorsal root ganglion cell line 50B117
The effects of early-treated phenylketonuria on volumetric measures of the cerebellum7
Valine metabolites analysis in ECHS1 deficiency7
Patients with Gaucher disease display systemic oxidative stress dependent on therapy status7
Adult GAMT deficiency: A literature review and report of two siblings6
A deep intronic variant is a common cause of OTC deficiency in individuals with previously negative genetic testing6
Creatine metabolism in patients with urea cycle disorders6
Plasma neurofilament light, glial fibrillary acidic protein and lysosphingolipid biomarkers for pharmacodynamics and disease monitoring of GM2 and GM1 gangliosidoses patients6
SURF1 related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey6
Outcomes and genotype correlations in patients with mitochondrial trifunctional protein or isolated long chain 3-hydroxyacyl-CoA dehydrogenase deficiency enrolled in the IBEM-IS database6
The CRISPR-Cas9 crATIC HeLa transcriptome: Characterization of a novel cellular model of ATIC deficiency and ZMP accumulation6
Untreated PKU patients without intellectual disability: SHANK gene family as a candidate modifier6
Hereditary orotic aciduria (HOA): A novel uridine-5-monophosphate synthase (UMPS) mutation6
The phenotypic spectrum of dihydrolipoamide dehydrogenase deficiency in Saudi Arabia6
Leigh syndrome-like MRI changes in a patient with biallelic HPDL variants treated with ketogenic diet6
“Real world effectiveness of cerliponase alfa in classical and atypical patients. A case series”6
Cardiac manifestations and effects of enzyme replacement therapy for over 10 years in adults with the attenuated form of mucopolysaccharidosis type I6
Diagnosis of Arboleda-Tham syndrome by whole genome sequencing in an Asian boy with severe developmental delay6
Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemia6
Improvement in hypertrophic cardiomyopathy after using a high-fat, high-protein and low-carbohydrate diet in a non-adherent child with glycogen storage disease type IIIa6
Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature6
Improvement of gastrointestinal symptoms in a significant proportion of male patients with classic Fabry disease treated with agalsidase beta: A Fabry Registry analysis stratified by phenotype6
Ethylmalonic encephalopathy: Clinical course and therapy response in an uncommon mild case with a severe ETHE1 mutation6
Clinical presentation of seven patients with Methylenetetrahydrofolate reductase deficiency5
A method for phenylalanine self-monitoring using phenylalanine ammonia-lyase and a pre-existing portable ammonia detection system5
Is hematopoietic stem cell transplantation a therapeutic option for mucolipidosis type II?5
Diagnosis, treatment, and follow-up of a case of Wolman disease with hemophagocytic lymphohistiocytosis5
Health economic burden of patients with phenylketonuria (PKU) – A retrospective study of German health insurance claims data5
Anti-drug antibody formation in Japanese Fabry patients following enzyme replacement therapy5
Case report: ‘AARS2 leukodystrophy’5
Enteral tube feeding in patients receiving dietary treatment for metabolic diseases: A retrospective analysis in a large French cohort5
Understanding and modifying Fabry disease: Rationale and design of a pivotal Phase 3 study and results from a patient-reported outcome validation study5
High incidence of null variants identified from newborn screening of X-linked adrenoleukodystrophy in Taiwan5
PKU and COVID19: How the pandemic changed metabolic control5
Behavioral, social and school functioning in children with Pompe disease5
Quantitative muscle ultrasound and electrical impedance myography in late onset Pompe disease: A pilot study of reliability, longitudinal change and correlation with function5
Nonclinical safety evaluation of pabinafusp alfa, an anti-human transferrin receptor antibody and iduronate-2-sulfatase fusion protein, for the treatment of neuronopathic mucopolysaccharidosis type II5
The role of glucosylsphingosine as an early indicator of disease progression in early symptomatic type 1 Gaucher disease5
Continuation of pegvaliase treatment during pregnancy: A case report5
Incremental biomarker and clinical outcomes after switch from enzyme therapy to eliglustat substrate reduction therapy in Gaucher disease5
Timing is everything: Clinical courses of Hunter syndrome associated with age at initiation of therapy in a sibling pair5
Congenital disorders of glycosylation: Prevalence, incidence and mutational spectrum in the Polish population5
Atypical presentation of Arts syndrome due to a novel hemizygous loss-of-function variant in the PRPS1 gene5
Triheptanoin – Novel therapeutic approach for the ultra-rare disease mitochondrial malate dehydrogenase deficiency5
Recurrent rhabdomyolysis and exercise intolerance: A new phenotype of late-onset thymidine kinase 2 deficiency5
Clinical and genetic features of 13 patients with mucopolysaccarhidosis type IIIB: Description of two novel NAGLU gene mutations5
Poly (A) tail length of human mitochondrial mRNAs is tissue-specific and a mutation in LRPPRC results in transcript-specific patterns of deadenylation5
Short-chain enoyl-CoA hydratase deficiency causes prominent ketoacidosis with normal plasma lactate levels: A case report5
Intra-operative kinetics of anti-HLA antibody in simultaneous liver-kidney transplantation4
Understanding the impact of long-chain fatty acid oxidation disorders for patients and caregivers4
Risk mitigation behaviors to prevent infection in the mitochondrial disease community during the COVID-19 pandemic4
The impact of disease severity on the psychological well-being of youth affected by an inborn error of metabolism and their families: A one-year longitudinal study4
Newborn screening for Gaucher disease in Japan4
A favorable outcome in an infantile-onset Pompe patient with cross reactive immunological material (CRIM) negative disease with high dose enzyme replacement therapy and adjusted immunomodulation4
The first SHORT syndrome in a Taiwanese boy: A case report and review of the literature4
Enzyme replacement therapy for children with acid sphingomyelinase deficiency in the real world: A single center experience in Taiwan4
Aldolase A deficiency: Report of new cases and literature review4
Molecular basis of ventricular arrhythmogenicity in a Pgc-1α deficient murine model4
Long-read single molecule real-time (SMRT) sequencing of GBA1 locus in Gaucher disease national cohort from Argentina reveals high frequency of complex allele underlying severe skeletal phenotypes: Co4
Does administration of hydroxychloroquine/amiodarone accelerate accumulation of globotriaosylceramide and globotriaosylsphingosine in Fabry mice?4
MAN1B1-CDG: Three new individuals and associated biochemical profiles4
Fatal outcome after heart surgery in PMM2-CDG due to a rare homozygous gene variant with double effects4
Reduction of agalsidase beta infusion time in patients with fabry disease: A case series report and suggested protocol4
Impact of the COVID-19 pandemic on the standard of care for patients with lysosomal storage diseases: A survey of healthcare professionals in the Fabry, Gaucher, and Hunter Outcome Survey registries4
Parental psychosocial aspects and stressors involved in the management of inborn errors of metabolism4
Identification of novel UROS mutations in a patient with congenital erythropoietic porphyria and efficient treatment by phlebotomy4
A new pathogenic POLG variant4
Zellweger spectrum disorder: A cross-sectional study of symptom prevalence using input from family caregivers4
Prevalence of cerebral small vessel disease in a Fabry disease cohort4
The Gaucher earlier diagnosis consensus point-scoring system (GED-C PSS): Evaluation of a prototype in Finnish Gaucher disease patients and feasibility of screening retrospective electronic health rec4
Early treatment of biotin–thiamine–responsive basal ganglia disease improves the prognosis4
Multiple variants in XDH and MOCOS underlie xanthine urolithiasis in dogs4
Utility of measuring very long-chain fatty-acyl carnitines in dried blood spots for newborn screening of X-linked Adrenoleukodystrophy4
Quality of life in children living with PKU – a single-center, cross-sectional, observational study from Hungary4
Chitotriosidase as a biomarker for gangliosidoses4
A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes4
Identification through exome sequencing of the first PMM2-CDG individual of Mexican mestizo origin4
The SGLT2-inhibitor dapagliflozin improves neutropenia and neutrophil dysfunction in a mouse model of the inherited metabolic disorder GSDIb4
Comprehensive clinical, biochemical, radiological and genetic analysis of 28 Turkish cases with suspected metachromatic leukodystrophy and their relatives4
Expression signature of the Leigh syndrome French-Canadian type4
Molecular analysis of GALT gene in Argentinian population: Correlation with enzyme activity and characterization of a novel Duarte-like allele4
Caregiver burden, and parents' perception of disease severity determine health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism4
Characterization of changes in the tyrosine pathway by 24-h profiling during nitisinone treatment in alkaptonuria3
Challenges of managing ornithine transcarbamylase deficiency in female heterozygotes3
Phenylketonuria in the Latvian population: Molecular basis, phenylalanine levels, and patient compliance3
Current status of surviving patients with arginase 1 deficiency in Japan3
Successful implementation of classical ketogenic dietary therapy in a patient with Niemann-Pick disease type C3
Idiosyncratic drug-induced liver injury caused by givosiran in a patient with acute intermittent porphyria3
Treatment experience in two adults with creatinfe transporter deficiency3
Allan-Herndon-Dudley syndrome in a female patient and related mechanisms3
Beyond predicting diagnosis: Is there a role for measuring biotinidase activity in liver glycogen storage diseases?3
Carriership of the rs113883650/rs2287120 haplotype of the SLC7A5 (LAT1) gene increases the risk of obesity in infants with phenylketonuria3
Novel GYS2 mutations in a Japanese patient with glycogen storage disease type 0a3
The rs113883650 variant of SLC7A5 (LAT1) gene may alter brain phenylalanine content in PKU3
A non-interventional observational study to identify and validate clinical outcome assessments for adults with phenylketonuria for use in clinical trials3
In vitro characterization of cells derived from a patient with the GLA variant c.376A>G (p.S126G) highlights a non-pathogenic role in Fabry disease3
Hyperleucinosis during infections in maple syrup urine disease post liver transplantation3
Stratification of patients with lysosomal acid lipase deficiency by enzyme activity in dried blood spots3
Novel compound heterozygote variants: c.4193_4206delinsG (p.Leu1398Argfs*25), c.793C > A (p.Pro265Thr), in the CPS1 gene (NM_001875.4) causing late onset carbamoyl phosphate synthetase 1 deficiency3
Acetazolamide treatment in late onset CDG type 1 due to biallelic pathogenic DHDDS variants3
Cardiovascular findings in classic homocystinuria3
A neuropathological cell model derived from Niemann−Pick disease type C patient-specific iPSCs shows disruption of the p62/SQSTM1−KEAP1−NRF2 Axis and impaired formation of neuronal networks3
Safety and efficacy of eliglustat combined to enzyme replacement therapy for lymphadenopathy in patients with Gaucher disease type 33
Unexpectedly high renal pathological scores of two female siblings with Fabry disease presenting with urinary mulberry cells without microalbuminuria3
Copy number variant analysis and expression profiling of the olfactory receptor-rich 11q11 region in obesity predisposition3
Differences in faecal microbiome composition between adult patients with UCD and PKU and healthy control subjects3
A case report of two siblings with hypertyrosinemia type 1 presenting with hepatic disease with different onset time and severity3
Liver transplantation in glycogen storage disease type Ib: The role of SGLT2 inhibitors3
Development of high sustained anti-drug antibody titers and corresponding clinical decline in a late-onset Pompe disease patient after 11+ years on enzyme replacement therapy3
Clinical and molecular characterization of mitochondrial DNA disorders in a group of Argentinian pediatric patients3
Congenital hypopituitarism due to novel compound heterozygous POU1F1 gene mutation: A case report and review of the literature3
Generation of GLA-knockout human embryonic stem cell lines to model peripheral neuropathy in Fabry disease3
Pyridoxine-dependent epilepsy (PDE-ALDH7A1) in adulthood: A Dutch pilot study exploring clinical and patient-reported outcomes3
Breastfeeding practices for infants with inherited metabolic disorders: A survey of registered dietitians in the United States and Canada3
Comparative urinary globotriaosylceramide analysis by thin-layer chromatography-immunostaining and liquid chromatography-tandem mass spectrometry in patients with Fabry disease3
Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia – A novel fumarylacetoacetate hydrolase (FAH) intronic disease-causing variant3
Toileting Abilities Survey as a surrogate outcome measure for cognitive function: Findings from neuronopathic mucopolysaccharidosis II patients treated with idursulfase and intrathecal idursulfase3
Perturbed body fluid distribution and osmoregulation in response to high salt intake in patients with hereditary multiple exostoses3
Maple syrup urine disease decompensation misdiagnosed as a psychotic event3
The mutation spectrum and ethnic distribution of Wilson disease, a review3
Total and reduced/oxidized forms of coenzyme Q10 in fibroblasts of patients with mitochondrial disease3
Utility of Hypotonia Diagnostic Investigations: A 12-year Single Center Study3
The effect of dietary protein restriction in a case of molybdenum cofactor deficiency with MOCS1 mutation3
Investigating the structural impacts of a novel missense variant identified with whole exome sequencing in an Egyptian patient with propionic acidemia3
A novel cause of emergent hyperammonemia: Cryptococcal fungemia and meningitis3
Clinical outcomes in elderly patients with Morquio a syndrome receiving enzyme replacement therapy - experience in a Colombian center3
Blood, urine and cerebrospinal fluid analysis in TH and AADC deficiency and the effect of treatment3
Combined donor-recipient genotypes of leptin receptor and adiponectin gene polymorphisms affect the incidence of complications after renal transplantation3
Genetic cause of heterogeneous inherited myopathies in a cohort of Greek patients3
Diffuse large B-cell non-Hodgkin's lymphoma in Gaucher disease3
Natural history of propionic acidemia in the Amish population3
Severe spinal cord hypoplasia due to a novel ATAD3A compound heterozygous deletion2
Evaluation of 3-O-methyldopa as a biomarker for aromatic L-amino acid decarboxylase deficiency in 7 Brazilian cases2
Lysinuric protein intolerance mimicking N-acetylglutamate synthase deficiency in a nine-year-old boy2
Initial presentation, management and follow-up data of 33 treated patients with hereditary tyrosinemia type 1 in the absence of newborn screening2
CYP21A2 mutations in pediatric patients with congenital adrenal hyperplasia in Costa Rica2
Use of pegvaliase in the management of phenylketonuria: Case series of early experience in US clinics2
Dysregulated DNA methylation in the pathogenesis of Fabry disease2
Growth hormone as a rescue treatment in maple syrup urine disease with lessons from pediatric burn literature, case report and brief literature review2
A novel MRPS34 gene mutation with combined OXPHOS deficiency in an adult patient with Leigh syndrome2
Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate treatment experience and cardiac evaluation using speckle echocardiography2
Novel mutation of IFT140 in an infant with Mainzer-Saldino syndrome presenting with retinal dystrophy2
In vivo biodistribution study of TAT-L-Sco2 fusion protein, developed as protein therapeutic for mitochondrial disorders attributed to SCO2 mutations2
Distinctive accumulation of globotriaosylceramide and globotriaosylsphingosine in a mouse model of classic Fabry disease2
Clinical, genetic, and structural characterization of a novel TUBB4B tubulinopathy2
Screening for potential undiagnosed Gaucher disease patients: Utilisation of the Gaucher earlier diagnosis consensus point-scoring system (GED-C PSS) in conjunction with electronic health record data,2
A novel de novo pathogenic variant in KDM3B gene at the first Albanian case of Diets-Jongmans syndrome: DIJOS2
Safety of a protocol for reduction of agalsidase beta infusion time in Fabry disease: An Italian multi-centre study2
Starting the conversation on gene therapy for phenylketonuria: Current perspectives of patients, caregivers, and advocates2
TNNI3 and KCNQ1 co-inherited variants in a family with hypertrophic cardiomyopathy and long QT phenotypes: A case report2
Precocious puberty in a girl with 3-methylglutaconic aciduria type 1 (3-MGA-I) due to a novel AUH gene mutation2
MPS VII – Extending the classical phenotype2
Incidence of Aicardi-Goutières syndrome and KCNT1-related epilepsy in Denmark2
Hearing loss in fabry disease: A 16 year follow-up study of the Danish nationwide cohort2
Ketogenic diet in action: Metabolic profiling of pyruvate dehydrogenase deficiency2
GBA1 variants in Brazilian Gaucher disease patients2
Domino liver transplant from a donor with maple syrup urine disease into a recipient with phenylketonuria2
Very early-onset inflammatory bowel disease: Novel description in glycogen storage disease type Ia2
Arginine kinetics are altered in a pilot sample of adolescents and young adults with Barth syndrome2
Placental pathology in an unsuspected case of mucolipidosis type II with secondary hyperparathyroidism in a premature infant2
A case of mucopolysaccharidosis type VI in a polish family. Importance of genetic testing and genotype-phenotype relationship in the diagnosis of mucopolysaccharidosis2
Cytochrome P450 genes expression in human prostate cancer2
Marked motor function improvement in a 32-year-old woman with childhood-onset hypophosphatasia by asfotase alfa therapy: Evaluation based on standardized testing batteries used in Duchenne muscular dy2
Clinical and molecular investigation of 37 Japanese patients with multiple acyl-CoA dehydrogenase deficiency: p.Y507D in ETFDH, a common Japanese variant, causes a mortal phenotype2
Management of erythropoietic protoporphyria with cholestatic liver disease: A case report2
The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders2
Pegvaliase dose escalation to 80 mg daily may lead to efficacy in patients who do not exhibit an optimal response at lower doses2
Early presentation of adult-onset conditions: A dual diagnosis of hereditary hemochromatosis and porphyria cutanea tarda2
Surface plasmon resonance analysis of complex formation of therapeutic recombinant lysosomal enzymes with domain 9 of human cation-independent mannose 6-phosphate receptor2
SARS CoV2 infection in a young subject affected by arginosuccinate synthase deficiency: A case report of epilepsy worsening2
Successful recovery from severe hypertension in a patient with Leigh syndrome2
Complex response to physiological and drug-induced hepatic heme demand in monoallelic ALAS1 mice2
Diagnosis of atypical myopathy based on organic acid and acylcarnitine profiles and evolution of biomarkers in surviving horses2
A pilot study of oral iron therapy in erythropoietic protoporphyria and X-linked protoporphyria2
A novel HADHA variant associated with an atypical moderate and late-onset LCHAD deficiency2
The biochemical profile and dietary management in S-adenosylhomocysteine hydrolase deficiency2
Uridine monophosphate (UMP)-responsive developmental and epileptic encephalopathy: A case report of two siblings and a review of literature2
Mutation spectrum of ATP7B gene in pediatric patients with Wilson disease in Vietnam2
Novel homozygous GLDC variant causing late-onset glycine encephalopathy: A case report and updated review of the literature2
Neuropsychiatric and sleep study in autosomal dominant dopa-responsive dystonia2
Long-term N-carbamylglutamate treatment of hyperammonemia in patients with classic organic acidemias2
Impact of COVID19 pandemic on patients with rare diseases in Spain, with a special focus on inherited metabolic diseases2
Outcome of the glutaric aciduria type 1 (GA1) newborn screening program in Manitoba: 1980–20202
Severe manifestations and treatment of COVID-19 in a transplanted patient with Fabry disease2
Real-world treatment, dosing, and discontinuation patterns among patients treated with pegvaliase for phenylketonuria: Evidence from dispensing data2
Long term follow-up of the dietary intake in propionic acidemia2
A novel RRM2B mutation associated with mitochondrial DNA depletion syndrome2
Generation and characterization of motor neuron progenitors and motor neurons using metachromatic leukodystrophy-induced pluripotent stem cells2
Long-term administration of intravenous Trappsol® Cyclo™ (HP-β-CD) results in clinical benefits and stabilization or slowing of disease progression in patients with Niemann-Pick disease type C1: Resul2
A retrospective analysis of metabolic control in children with PKU in the COVID-19 era1
A neonate with ornithine aminotransferase deficiency; insights on the hyperammonemia-associated biochemical phenotype of gyrate atrophy1
Partial suppression of BCAA catabolism as a potential therapy for BCKDK deficiency1
Liver transplantation in ornithine transcarbamylase deficiency: A retrospective multicentre cohort study1
Disease burden, management patterns and multidisciplinary clinical approaches for patients with MPS IVA and VI in selected Latin American Countries1
Mucopolysaccharidosis type I due to maternal uniparental disomy of chromosome 4 with partial isodisomy of 4p16.3p15.21
Successful pregnancy in a woman with glycogen storage disease type 61
Open-label phase 1/2 study of vestronidase alfa for mucopolysaccharidosis VII1
Clinical utility of urinary mulberry bodies/cells testing in the diagnosis of Fabry disease1
Clinical utility of brain MRS imaging of patients with adult-onset non-cirrhotic hyperammonemia1
Lipid nanoparticle delivers phenylalanine ammonia lyase mRNA to the liver leading to catabolism and clearance of phenylalanine in a phenylketonuria mouse model1
An in silico approach to identify early damage biomarker candidates in metachromatic leukodystrophy1
Maximal dietary responsiveness after tetrahydrobiopterin (BH4) in 19 phenylalanine hydroxylase deficiency patients: What super-responders can expect1
Allogeneic hematopoietic stem cell transplantation for treating severe lung involvement in Gaucher disease1
Greater disease burden of variegate porphyria than hereditary coproporphyria: An Israeli nationwide study of neurocutaneous porphyrias1
Considerations for prenatal and postpartum management of a female patient with ornithine transcarbamylase deficiency1
Efficacy of early haematopoietic stem cell transplantation versus enzyme replacement therapy on neurological progression in severe Hunter syndrome: Case report of siblings and literature review1
Familial lecithin-cholesterol acyltransferase deficiency: If so rare, why so frequent in the state of Piauí, northeastern Brazil?1
The challenge of adults with phenylketonuria who have been lost to care; a single center's attempt to reach those diagnosed with PKU over 60 years of newborn screening1
Nutrient management in the intrapartum period in maternal maple syrup urine disease1
New mutation in Fabry disease: c.448delG, first phenotypic description1
A new strategy of desensitization in mucopolysaccharidosis type II disease treated with idursulfase therapy: A case report and review of the literature1
Polycystic kidney disease complicates renal pathology in a family with Fabry disease1
Focal segmental glomerulosclerosis with a mutation in the mitochondrially encoded NADH dehydrogenase 5 gene: A case report1
Clinical, biochemical and molecular characterization of Wilson's disease in Moroccan patients1
SLC37A4-CDG: Mislocalization of the glucose-6-phosphate transporter to the Golgi causes a new congenital disorder of glycosylation1
A novel mutation in the PEX26 gene in a family from Dagestan with members affected by Zellweger spectrum disorder1
Biotinidase deficiency is a rare, potentially treatable cause of peripheral neuropathy with or without optic neuropathy in adults1
Exogenous aralar/slc25a12 can replace citrin/slc25a13 as malate aspartate shuttle component in liver1
Impaired neural differentiation of MPS IIIA patient induced pluripotent stem cell-derived neural progenitor cells1
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