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 2021-05-01 to 2025-05-01.)
ArticleCitations
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 therapy18
Aldolase A deficiency: Report of new cases and literature review18
Allan-Herndon-Dudley syndrome in a female patient and related mechanisms17
Rapid genotyping of inversion variants in Mucopolysaccharidosis type II using long-range PCR: A case report14
Compound heterozygote variants: c.848A > G; p.Glu283Gly and c.890C > T; p.Ala297Val, of Isovaleric acid-CoA dehydrogenase (IVD) gene causing severe Isovaleric acidemia with hyperammonemia13
Physical, cognitive, and social status of patients with urea cycle disorders in Japan12
Corrigendum to “Evaluation of 3-O-methyldopa as a biomarker for aromatic L-amino acid decarboxylase deficiency in 7 Brazilian cases” [27/100744/2021/ pages: 1-4]12
Idiosyncratic drug-induced liver injury caused by givosiran in a patient with acute intermittent porphyria11
Biallelic variants in the NDUFAF6 cause mitochondrial respiratory complex assembly defects associated with Leigh syndrome in probands11
Dietary restriction in the long-chain acyl-CoA dehydrogenase knockout mouse11
Maximal dietary responsiveness after tetrahydrobiopterin (BH4) in 19 phenylalanine hydroxylase deficiency patients: What super-responders can expect10
Distinctive accumulation of globotriaosylceramide and globotriaosylsphingosine in a mouse model of classic Fabry disease10
Reduction of lysosome abundance and GAG accumulation after odiparcil treatment in MPS I and MPS VI models10
Stratification of patients with lysosomal acid lipase deficiency by enzyme activity in dried blood spots10
X-linked intellectual developmental disorder with onset of neonatal heart failure: A case report and literature review10
Congenital hypopituitarism due to novel compound heterozygous POU1F1 gene mutation: A case report and review of the literature9
FBN2 pathogenic mutation in congenital contractural arachnodactyly with severe skeletal manifestations9
Clinical utility of urinary mulberry bodies/cells testing in the diagnosis of Fabry disease9
A 12-month, longitudinal, intervention study examining a tablet protein substitute preparation in the management of tyrosinemia9
Retraction notice to “Sustaining benefits of nutritional therapy in young adults with phenylketonuria - A 2 year prospective study” [Molecular Genetics and Metabolism Reports 22 (2020) 100573].9
Impact on physical, social, and family functioning of patients with metachromatic leukodystrophy and their family members in Japan: A qualitative study9
Complex response to physiological and drug-induced hepatic heme demand in monoallelic ALAS1 mice9
MAN1B1-CDG: Three new individuals and associated biochemical profiles8
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 II8
Newborn screening for spinal muscular atrophy in Japan: One year of experience8
CRISPR correction of the Finnish ornithine delta-aminotransferase mutation restores metabolic homeostasis in iPSC from patients with gyrate atrophy8
Patient-reported visual function outcomes agree with visual acuity and ophthalmologist-graded scoring of visual function among patients with long-chain 3-hydroxyacylcoA dehydrogenase deficiency (LCHAD8
Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemia8
Starting the conversation on gene therapy for phenylketonuria: Current perspectives of patients, caregivers, and advocates8
Fabry disease caused by the GLA p.Gly183Asp (p.G183D) variant: Clinical profile of a serious phenotype8
Novel homozygous GLDC variant causing late-onset glycine encephalopathy: A case report and updated review of the literature7
Quality of life in children living with PKU – a single-center, cross-sectional, observational study from Hungary7
Newborn screening and genetic diagnosis of 3-methylcrotonyl-CoA carboxylase deficiency in Quanzhou,China7
Pre-analytic decrease of phenylalanine in plasma of patients with phenylketonuria treated with pegvaliase7
Identification of a novel fusion Iduronidase with improved activity in the cardiovascular system7
In depth profiling of dihydrolipoamide dehydrogenase deficiency in primary patients fibroblasts reveals metabolic reprogramming secondary to mitochondrial dysfunction7
BALB.NCT-Cpox is a unique mouse model of hereditary coproporphyria7
The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders7
Serendipitous discovery of phenylketonuria in Iraq – How to identify and treat?7
Outcomes and genotype correlations in patients with mitochondrial trifunctional protein or isolated long chain 3-hydroxyacyl-CoA dehydrogenase deficiency enrolled in the IBEM-IS database7
A non-interventional observational study to identify and validate clinical outcome assessments for adults with phenylketonuria for use in clinical trials6
A novel double GLA gene mutation of W24R and N419D in a patient with cardiac Fabry disease6
Impact of classical homocystinuria on health care resource utilization and costs in the United States: A retrospective cohort study6
Avalglucosidase alfa in infantile-onset Pompe disease: A snapshot of real-world experience in Italy6
The biochemical profile and dietary management in S-adenosylhomocysteine hydrolase deficiency6
The broad spectrum of clinical manifestations observed in three patients with L2 hydroxyglutaric aciduria spans from febrile seizures to complex dystonia6
Use of pegvaliase in the management of phenylketonuria: Case series of early experience in US clinics6
A case report of pregnancy in untreated alkaptonuria – Focus on urinary tissue remodelling markers6
Critical sample collection delayed? Urine organic acid analysis can still save the day! A new case of HMG-CoA synthase deficiency6
Medication adherence in Fabry patients treated with migalastat: Real world experience6
DNAJC12 deficiency: Mild hyperphenylalaninemia and neurological impairment in two siblings6
Does administration of hydroxychloroquine/amiodarone accelerate accumulation of globotriaosylceramide and globotriaosylsphingosine in Fabry mice?6
Expression signature of the Leigh syndrome French-Canadian type5
MPS VII – Extending the classical phenotype5
Diagnosis of atypical myopathy based on organic acid and acylcarnitine profiles and evolution of biomarkers in surviving horses5
LC-MS/MS-based enzyme assay for lysosomal acid lipase using dried blood spots5
A synonymous KCNJ11 variant leading to MODY13: A case report and literature review5
Optimizing clinical outcomes: The journey of twins with CRIM-negative infantile-onset Pompe disease on high-dose enzyme replacement therapy and immunomodulation5
Diagnosis, treatment, and follow-up of a case of Wolman disease with hemophagocytic lymphohistiocytosis5
Frequency of iduronate-2-sulfatase gene variants detected in newborn screening for mucopolysaccharidosis type II in Japan5
GBA1 variants in Brazilian Gaucher disease patients5
Pegvaliase-induced immediate hypersensitivity reaction after the discontinuation of antihistamine therapy in a patient with phenylketonuria – Case report5
Clinical characterization and genetic analysis of transient abnormal myelopoiesis without the down syndrome phenotype5
Hematopoietic cell transplantation for sialidosis type I5
Novel compound heterozygous mutations in LEP responsible for obesity in a Chinese family5
The diagnostic journey for patients with late-onset GM2 Gangliosidoses5
Shared decision making between patients with Fabry disease and physicians in Japan: An online survey5
Glutaric aciduria and L-2-hydroxyglutaric aciduria: Clinical and molecular findings of 35 patients from Turkey5
Unexplained splenomegaly as a diagnostic marker for a rare but severe disease with an innovative and highly effective new treatment option: A case report5
Natural history of inflammation and impaired autophagy in children with Gaucher disease identified by newborn screening5
High incidence of null variants identified from newborn screening of X-linked adrenoleukodystrophy in Taiwan5
Natural history of propionic acidemia in the Amish population4
A novel mutation in the PEX26 gene in a family from Dagestan with members affected by Zellweger spectrum disorder4
Protective effects of alpha-lipoic acid on hair cell damage in diabetic zebrafish model4
Classical homocystinuria, is it safe to exercise?4
Expanded inherited metabolic diseases screening by tandem mass spectrophotometry: The first report from Iran4
Corrigendum to “Long-term follow-up of renal function in patients treated with migalastat for Fabry disease” [Bichet et al., MGM Reports; 28 (2021) 100786]4
Relief of nocturnal neuropathic pain with the use of cannabis in a patient with Fabry disease4
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 screening4
Neuropsychological endpoints for clinical trials in methylmalonic acidemia and propionic acidemia: A pilot study4
Caregiver burden, and parents' perception of disease severity determine health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism4
Brain-sparing cord blood transplantation for the borderline stage of adrenoleukodystrophy4
Comparative study on incorporation of three recombinant human α-galactosidase A drugs (agalsidases) into cultured fibroblasts and organs/tissues of Fabry mice4
Mutation spectrum of ATP7B gene in pediatric patients with Wilson disease in Vietnam4
A case report of riboflavin transporter deficiency: A novel heterozygous pathogenic variant in the SLC52A3 gene4
New mutations identified in a case of Glycogenin-1 deficiency4
Therapy-type related long-term outcomes in mucopolysaccaridosis type II (Hunter syndrome) – Case series4
Blepharoptosis in infantile onset Pompe disease: Histological findings and surgical outcomes4
Long-term experience with idursulfase beta (Hunterase) in two adolescent patients with MPS II: A case series4
The mutation spectrum and ethnic distribution of Wilson disease, a review4
Association of ZBTB38 gene polymorphism (rs724016) with height and fetal hemoglobin in individuals with sickle cell anemia4
Clinical and biochemical phenotypes, genotypes, and long-term outcomes of individuals with galactosemia type I from a single metabolic genetics center in Alberta4
LPIN1 rhabdomyolysis: A single site cohort description and treatment recommendations4
Joint replacement risk is markedly increased in alkaptonuria (AKU) in those with prior arthroplasty4
Baseline urinary ALA and PBG as criteria for starting pharmacologic prophylactic treatment in acute intermittent porphyria treated with givosiran4
Clinical characteristics and somatic burden of patients with mucopolysaccharidosis II with or without neurological involvement: An analysis from the Hunter Outcome Survey4
TNNI3 and KCNQ1 co-inherited variants in a family with hypertrophic cardiomyopathy and long QT phenotypes: A case report4
Efficacy of avalglucosidase alfa on forced vital capacity percent predicted in treatment-naïve patients with late-onset Pompe disease: A pooled analysis of clinical trials4
The metabolic landscape of tetrahydrobiopterin metabolism disorders in the Republic of Ireland4
Characterization of a novel exonic deletion in the GALNS gene causing Morquio A syndrome4
Placental pathology in an unsuspected case of mucolipidosis type II with secondary hyperparathyroidism in a premature infant4
A novel frameshift variant in the SLC2A1 gene causing a mild phenotype of GLUT1 deficiency syndrome: case report4
Corrigendum to “Expanding the phenotype of RBCK1-associated polyglucosan body myopathy type 1”3
A child with dilated cardiomyopathy and homozygous splice site variant in FLNC gene3
Real world long-term outcomes in patients with mucopolysaccharidosis type II: A retrospective cohort study3
Adult GAMT deficiency: A literature review and report of two siblings3
A survey on the patient journey in Fabry disease in Japan3
Identification of pathogenic GCK variants in patients with common type 2 diabetes can lead to discontinuation of pharmacological treatment3
Clinical features and GCDH gene variants in three Chinese families with glutaric aciduria type 1: A case series and literature review3
Use of dexamethasone in acute rhabdomyolysis in LPIN1 deficiency3
Gonadal mosaicism in GNAO1 causing neurodevelopmental disorder with involuntary movements; two additional variants3
Acid α-glucosidase (GAA) activity and glycogen content in muscle biopsy specimens of patients with Pompe disease: A systematic review3
Pegvaliase for the treatment of phenylketonuria: Final results of a long-term phase 3 clinical trial program3
Corrigendum to “A new pathogenic POLG variant” [Molecular Genetics and Metabolism Reports 32 (2022) 100890]3
Quantitative muscle ultrasound and electrical impedance myography in late onset Pompe disease: A pilot study of reliability, longitudinal change and correlation with function3
Non-functional alternative splicing caused by a Latino pathogenic variant in a case of PMM2-CDG3
Molecular basis of ventricular arrhythmogenicity in a Pgc-1α deficient murine model3
Management of patients with phenylketonuria (PKU) under enzyme replacement therapy: An Italian model (expert opinion)3
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 experie3
“Real world effectiveness of cerliponase alfa in classical and atypical patients. A case series”3
Health economic burden of patients with phenylketonuria (PKU) – A retrospective study of German health insurance claims data3
Does administration of hydroxychloroquine/amiodarone affect the efficacy of enzyme replacement therapy for Fabry mice?3
Generation of GLA-knockout human embryonic stem cell lines to model peripheral neuropathy in Fabry disease3
Variable disease manifestations and metabolic management within a single family affected by ornithine transcarbamylase deficiency3
Current status of surviving patients with arginase 1 deficiency in Japan3
Expanding the phenotype of RBCK1-associated polyglucosan body myopathy type 13
Treatment of CLN1 disease with a blood-brain barrier penetrating lysosomal enzyme3
A novel GATA3 frameshift mutation causes hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome3
Dose-intensive therapy (DIT) for infantile Pompe disease: A pilot study3
Ketogenic diet in action: Metabolic profiling of pyruvate dehydrogenase deficiency3
A novel cause of emergent hyperammonemia: Cryptococcal fungemia and meningitis3
Valine metabolites analysis in ECHS1 deficiency3
An unusually mild case of biotin-thiamine-responsive basal ganglia disease3
Reduced α-galactosidase A activity in zebrafish (Danio rerio) mirrors distinct features of Fabry nephropathy phenotype3
Classic and Atypical Late Infantile Neuronal Ceroid Lipofuscinosis in Latin America: Clinical and Genetic Aspects, and Treatment Outcome with Cerliponase Alfa3
Navigating social determinants of health barriers in the management of phenylketonuria3
Breastfeeding practices for infants with inherited metabolic disorders: A survey of registered dietitians in the United States and Canada3
Partial suppression of BCAA catabolism as a potential therapy for BCKDK deficiency2
Examination of a blood-brain barrier targeting β-galactosidase-monoclonal antibody fusion protein in a murine model of GM1-gangliosidosis2
Familial schwannomatosis carrying LZTR1 variant p.R340X with brain tumor: A case report2
Focal segmental glomerulosclerosis with a mutation in the mitochondrially encoded NADH dehydrogenase 5 gene: A case report2
Natural history of three late-diagnosed classic Galactosemia patients2
Association between maternally inherited deafness, epilepsy, and intellectual disability and the m.12207G > A MT-TS2 pathogenic variant in a Japanese family2
Safety and efficacy of eliglustat combined to enzyme replacement therapy for lymphadenopathy in patients with Gaucher disease type 32
Long term follow-up of the dietary intake in propionic acidemia2
Neurocognitive testing in a murine model of mucopolysaccharidosis type IIIA2
A novel MRPS34 gene mutation with combined OXPHOS deficiency in an adult patient with Leigh syndrome2
Leukoencephalopathy with Brain stem and Spinal cord involvement and Lactate elevation (LBSL): Report of a new family and a novel DARS2 mutation2
α-Gal A missense variants associated with Fabry disease can lead to ER stress and induction of the unfolded protein response2
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 deficiency2
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Dysregulated DNA methylation in the pathogenesis of Fabry disease2
Safety of a protocol for reduction of agalsidase beta infusion time in Fabry disease: An Italian multi-centre study2
Multiple variants in XDH and MOCOS underlie xanthine urolithiasis in dogs2
Fabry Disease Patient-Reported Outcome (FD-PRO) demonstrates robust measurement properties for assessing symptom severity in Fabry disease2
Outcomes of cases with elevated 3-hydroxyisovaleryl carnitine report from the newborn screening program2
Adherence to PKU guidelines among patients with phenylketonuria: A cross-sectional national multicenter survey-based study in Argentina, Brazil, and Mexico2
Induced pluripotent stem cell technology as diagnostic tool in patients with suspected ornithine transcarbamylase deficiency lacking genetic confirmation2
Open-label phase 1/2 study of vestronidase alfa for mucopolysaccharidosis VII2
Letter to the Editors: Concerning “Hyperleucinosis during infections in maple syrup urine disease post-liver transplantation” by Guilder et al2
A case of gaucher disease with a rare complication of gaucheroma and protein-losing enteropathy2
Initial presentation, management and follow-up data of 33 treated patients with hereditary tyrosinemia type 1 in the absence of newborn screening2
Citrin-deficient patient-derived induced pluripotent stem cells as a pathological liver model for congenital urea cycle disorders2
A retrospective analysis of metabolic control in children with PKU in the COVID-19 era2
Management of erythropoietic protoporphyria with cholestatic liver disease: A case report2
The patients` perspective on home-based infusion: A longitudinal observational study in the German healthcare setting for patients with lysosomal storage disorders treated with enzyme replacement ther2
A case series of Cypriot patients with CblC defect: Clinical, biochemical and molecular characteristics2
RNA analysis of the GALNS transcript reveals novel pathogenic mechanisms associated with Morquio syndrome A2
Propionic Acidemia diagnosed in Amish adults and pregnancy outcomes: A case series2
The first SHORT syndrome in a Taiwanese boy: A case report and review of the literature2
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
Impact of COVID19 pandemic on patients with rare diseases in Spain, with a special focus on inherited metabolic diseases2
Clinical features of two Japanese siblings of neuronal ceroid lipofuscinosis type 1 (CLN1) complicated with TypeⅡ diabetes mellitus2
Clinical characteristics and effects of enzyme replacement therapy with elosulfase alfa in Korean patients with mucopolysaccharidosis type IVA2
Understanding and modifying Fabry disease: Rationale and design of a pivotal Phase 3 study and results from a patient-reported outcome validation study2
Domino liver transplant from a donor with maple syrup urine disease into a recipient with phenylketonuria2
Clinical and genetic characteristics of a patient with phosphoribosyl pyrophosphate synthetase 1 deficiency and a systematic literature review2
Unbalanced long-chain fatty acid beta-oxidation in newborns with cystic fibrosis and congenital hypothyroidism2
Pyridoxine-dependent epilepsy (PDE-ALDH7A1) in adulthood: A Dutch pilot study exploring clinical and patient-reported outcomes2
Familial lecithin-cholesterol acyltransferase deficiency: If so rare, why so frequent in the state of Piauí, northeastern Brazil?2
Novel mutation of IFT140 in an infant with Mainzer-Saldino syndrome presenting with retinal dystrophy2
Clinical, genetic characteristics and outcome of four Chinese patients with Bartter syndrome type 3: Further insight into a genotype-phenotype correlation2
Lipid nanoparticle delivers phenylalanine ammonia lyase mRNA to the liver leading to catabolism and clearance of phenylalanine in a phenylketonuria mouse model2
Leigh syndrome-like MRI changes in a patient with biallelic HPDL variants treated with ketogenic diet2
Favorable outcomes following early onset oral miglustat in early infantile Niemann Pick Type C2
Clinical and molecular analysis of a novel variant in heme oxygenase-1 deficiency: Unraveling its role in inflammation, heme metabolism, and pulmonary phenotype2
Use of T1 mapping in cardiac MRI for the follow-up of Fabry disease in a pediatric population2
Lysinuric protein intolerance caused by a homozygous SLC7A7 deletion and presented with hyperferritinemia and osteoporosis in two siblings2
A case study of lethal neonatal CPT II deficiency: Novel insights from genetic analysis2
A novel COQ7 mutation causing primarily neuromuscular pathology and its treatment options2
Chitotriosidase as a biomarker for gangliosidoses2
Mitochondrial neurogastrointestinal encephalomyopathy: Clinical and biochemical impact of allogeneic stem cell transplantation in a Greek patient with one novel TYMP mutation2
Clinical utility of brain MRS imaging of patients with adult-onset non-cirrhotic hyperammonemia2
Low bone mineralization in phenylketonuria may be due to undiagnosed metabolic acidosis2
Ataluren-mediated nonsense variant readthrough in D-bifunctional protein deficiency: A case report2
A novel de novo pathogenic variant in KDM3B gene at the first Albanian case of Diets-Jongmans syndrome: DIJOS2
Translation of quality of life scale for pediatric patients with Fabry disease in Japan2
Newborn screening for isovaleric acidemia: A case report of a Chinese patient with novel variants2
Untreated PKU patients without intellectual disability: SHANK gene family as a candidate modifier2
Biochemical and molecular characteristics among infants with abnormal newborn screen for very-long-chain acyl-CoA dehydrogenase deficiency: A single center experience2
A new multiplex analysis of glucosylsphingosine and globotriaosylsphingosine in dried blood spots by tandem mass spectrometry2
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 disease2
Cholic acid increases plasma cholesterol in Smith-Lemli-Opitz syndrome: A pilot study2
Clinical and molecular characterization of mitochondrial DNA disorders in a group of Argentinian pediatric patients1
Expanding the genetic spectrum of the pyruvate carboxylase deficiency with novel missense, deep intronic and structural variants1
Non-invasive intravenous administration of AAV9 transducing iduronate sulfatase leads to global metabolic correction and prevention of neurologic deficits in a mouse model of Hunter syndrome1
Carglumic acid as a treatment for persistent hyperammonemia in carnitine-acylcarnitine translocase deficiency: A case study1
The role of genetic testing in suspected fulminant myocarditis: A case report1
Growth patterns in patients with mucopolysaccharidosis VII1
Professional activity, gender and disease-related emotions: The impact on parents' experiences in caring for children with phenylketonuria1
Cytochrome P450 genes expression in human prostate cancer1
Neuropsychiatric and sleep study in autosomal dominant dopa-responsive dystonia1
Successful pregnancy and childbirth without metabolic abnormality in a patient with holocarboxylase synthetase deficiency1
Plasma neurofilament light, glial fibrillary acidic protein and lysosphingolipid biomarkers for pharmacodynamics and disease monitoring of GM2 and GM1 gangliosidoses patients1
Successful pregnancy in a woman with glycogen storage disease type 61
Importance and application of WES in fetal genetic diagnostics: Identification of novel ASPM mutation in a fetus with microcephaly1
Cerebral folate deficiency: A report of two affected siblings1
Novel mutation of COG5 in a Taiwanese girl with congenital disorders of glycosylation manifesting as developmental delay1
Real-world data assessment of safety of home-based and hospital/outpatient-based laronidase enzyme replacement therapy for mucopolysaccharidosis I1
Effectiveness and tolerability of givosiran for the management of acute hepatic porphyria: A monocenter real-life evaluation1
Acid sphingomyelinase deficiency: The clinical spectrum of 2 patients who carry the Q294K mutation and diagnostic challenges1
Long-term follow-up of acute porphyria in female patients: Update of clinical outcome and life expectancy1
The SGLT2-inhibitor dapagliflozin improves neutropenia and neutrophil dysfunction in a mouse model of the inherited metabolic disorder GSDIb1
Prevalence of cerebral small vessel disease in a Fabry disease cohort1
Plasma arginine levels in arginase deficiency in the “real world”1
Underdiagnosis of Fabry disease in minority ethnic groups1
Evaluation of 3-O-methyldopa as a biomarker for aromatic L-amino acid decarboxylase deficiency in 7 Brazilian cases1
A neonate with ornithine aminotransferase deficiency; insights on the hyperammonemia-associated biochemical phenotype of gyrate atrophy1
Impact of the Covid19 pandemic on health-related quality of life in patients with Fabry disease - implications for future care of patients with rare diseases1
Profound neonatal lactic acidosis and renal tubulopathy in a patient with glycogen storage disease type IXɑ2 secondary to a de novo pathogenic variant in PHKA21
Reinstitution of pegvaliase therapy during lactation1
Intrafamilial phenotypic variability due to a missense pathogenic variant in FBP1 gene1
Treating the whole patient: Facilitating health care for patients facing health inequity1
Analysis of readability of the top web searches for pediatric inborn errors of fatty acid metabolism1
Treatment experience in two adults with creatinfe transporter deficiency1
Towards genomic-Newborn Screening: Technical feasibility of Exome Sequencing starting from dried blood spots1
The perioperative transition of serum biomarkers of a 1.5-year-old boy with very-long-chain acyl-CoA dehydrogenase deficiency1
Comparative urinary globotriaosylceramide analysis by thin-layer chromatography-immunostaining and liquid chromatography-tandem mass spectrometry in patients with Fabry disease1
Mannose phosphate isomerase-congenital disorder of glycosylation leads to asymptomatic hypoglycemia1
Long-term outcomes in two adult siblings with Fucosidosis – Diagnostic odyssey and clinical manifestations1
Increased atherosclerosis in a mouse model of glycogen storage disease type 1a1
Perturbed body fluid distribution and osmoregulation in response to high salt intake in patients with hereditary multiple exostoses1
Stealthy progression of type 2 diabetes mellitus due to impaired ketone production in an adult patient with multiple acyl-CoA dehydrogenase deficiency1
New mutation in Fabry disease: c.448delG, first phenotypic description1
Oral health care knowledge among Phenylketonuria patients in the Latvian population1
Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database1
Long-term follow-up of renal function in patients treated with migalastat for Fabry disease1
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
Elagolix is porphyrogenic and may induce porphyric attacks in patients with the acute hepatic porphyrias1
Maternal vitamin deficiency mimicking multiple acyl-CoA dehydrogenase deficiency on newborn screening1
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