S. Santra

Efficacy results from a 12-month double-blind randomized trial of arimoclomol for treatment of Niemann-Pick disease type C (NPC): Presenting a rescored 4-domain NPC Clinical Severity Scale
20252 citationsauthor #14
Outcomes of Pediatric Liver Transplantation in Glycogen Storage Disease Type 1b—A Single‐Center Experience
20242 citationsauthor #2
Clinical landscape of citrin deficiency: A global perspective on a multifaceted condition
202421 citationsauthor #3
The incidence of movement disorders increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria
20230 citationsauthor #24
MaP NATURAL HISTORY STUDY: CLINICAL AND BIOMARKER FINDINGS IN METHYLMALONIC ACIDEMIA DUE TO MUT DEFICIENCY
20230 citationsauthor #8
MaP NATURAL HISTORY STUDY: CLINICAL AND BIOMARKER FINDINGS IN PROPIONIC ACIDEMIA
20232 citationsauthor #3
The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria
20238 citationsauthor #25
Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway
202211 citationsauthor #6
Postauthorization safety study of betaine anhydrous
20229 citationsauthor #23
Altered gut microbiome diversity and function in patients with propionic acidemia.
20225 citationsauthor #7
Efficacy of early haematopoietic stem cell transplantation versus enzyme replacement therapy on neurological progression in severe Hunter syndrome: Case report of siblings and literature review
20225 citationsauthor #8
Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology.
20220 citationsauthor #15
Wilson's Disease and Hyperornithinemia-hyperammonemia-homocitrullinuria Syndrome in a Child: A Case Report with Lessons Learned!
20212 citationsauthor #3
Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR)
202127 citationsauthor #9
Persistent Effect of Arimoclomol in Patients with Niemann-Pick Disease Type C: 24-Month Results from an Open-Label Extension of a Pivotal Phase 2/3 Study
20210 citationsauthor #13
A Case Series on Genotype and Outcome of Liver Transplantation in Children with Niemann-Pick Disease Type C
20216 citationsauthor #9
Efficacy and safety of arimoclomol in Niemann‐Pick disease type C: Results from a double‐blind, randomised, placebo‐controlled, multinational phase 2/3 trial of a novel treatment
202161 citationsauthor #13
The natural history of glycogen storage disease type Ib in England: A multisite survey
202112 citationsauthor #13
Impact of long-term elosulfase alfa treatment on clinical and patient-reported outcomes in patients with mucopolysaccharidosis type IVA: results from a Managed Access Agreement in England
202120 citationsauthor #9
Natural History of Leigh Syndrome: A Study of Disease Burden and Progression
202134 citationsauthor #8
Correction to: Clinical disease progression and biomarkers in Niemann–Pick disease type C: a prospective cohort study
20211 citationsauthor #11
Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort
20203 citationsauthor #467
Clinical disease progression and biomarkers in Niemann–Pick disease type C: a prospective cohort study
202021 citationsauthor #11
Evolocumab in Pediatric Heterozygous Familial Hypercholesterolemia.
2020125 citationsauthor #12
Long-term clinical outcomes of patients with Morquio syndrome type A treated with elosulfase alfa: Results from a managed access agreement in England
20200 citationsauthor #7
Natural Protein Tolerance and Metabolic Control in Patients with Hereditary Tyrosinaemia Type 1
20208 citationsauthor #7
Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network
202016 citationsauthor #38
An uncommon cause of early infantile liver disease and raised chitotriosidase
20206 citationsauthor #4
Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency
202093 citationsauthor #29
Efficacy and safety of arimoclomol in patients with Niemann-Pick disease type C: Results from a double-blind, randomized placebo-controlled trial with a novel treatment
20202 citationsauthor #13
G472 Delayed diagnosis of a gluconeogenic disorder in children with hypoglycaemia and/or lactic acidosis: lessons learnt
20200 citationsauthor #8
Clinical presentation and proteomic signature of patients with TANGO2 mutations
201951 citationsauthor #20
Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS
201976 citationsauthor #40
The Effect of Various Doses of Phenylalanine Supplementation on Blood Phenylalanine and Tyrosine Concentrations in Tyrosinemia Type 1 Patients
20197 citationsauthor #10
The Effect of Glycomacropeptide versus Amino Acids on Phenylalanine and Tyrosine Variability over 24 Hours in Children with PKU: A Randomized Controlled Trial
201923 citationsauthor #4
Phenotype, treatment practice and outcome in the cobalamin‐dependent remethylation disorders and MTHFR deficiency: Data from the E‐HOD registry
201946 citationsauthor #52
Glycomacropeptide: long-term use and impact on blood phenylalanine, growth and nutritional status in children with PKU
201927 citationsauthor #4
[3-hydroxy-3-methylglutaryl-CoA lyase deficiency: a case report and literature review].
20185 citationsauthor #7
Safety, immunogenicity, and clinical outcomes in patients with Morquio A syndrome participating in 2 sequential open-label studies of elosulfase alfa enzyme replacement therapy (MOR-002/MOR-100), representing 5 years of treatment.
201825 citationsauthor #2
De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures
201838 citationsauthor #196
Safety, efficacy, and immunogenicity of elosulfase alfa in patients with Morquio syndrome type A participating in 2 sequential open-label studies (MOR-002/MOR-100), representing 5 years of treatment
20180 citationsauthor #2
The genotypic and phenotypic spectrum of MTO1 deficiency
201833 citationsauthor #18
Whole genome sequencing of a sporadic primary immunodeficiency cohort
2018173 citationsauthor #467
Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3′‐end processing
201846 citationsauthor #27
The safety of Lipistart, a medium-chain triglyceride based formula, in the dietary treatment of long-chain fatty acid disorders: a phase I study
20186 citationsauthor #11
Publisher Correction: Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data
20180 citationsauthor #283
Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry
201839 citationsauthor #55
A comparison of stem cell transplant versus enzyme replacement therapy in infants with MPS II
20180 citationsauthor #5
NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses
201862 citationsauthor #21
Refining low protein modular feeds for children on low protein tube feeds with organic acidaemias☆☆☆☆☆☆
20173 citationsauthor #5
A long-term extension study evaluating intrathecal idursulfase-IT in children with Hunter syndrome and cognitive impairment
20176 citationsauthor #8
Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data
201767 citationsauthor #283
Approach to hypoglycaemia in childhood
20170 citationsauthor #5
Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration.
201730 citationsauthor #242
The challenge of nutritional profiling of a protein‐free feed module for children on low protein tube feeds with organic acidaemias
20175 citationsauthor #5
Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction.
201735 citationsauthor #6
Expanding the phenotype in argininosuccinic aciduria: need for new therapies
201768 citationsauthor #5
Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension
2017112 citationsauthor #165
Glycomacropeptide in children with phenylketonuria: does its phenylalanine content affect blood phenylalanine control?
201732 citationsauthor #4
Novel Homozygous PCK1 Mutation
20170 citationsauthor #9
The challenges of vitamin and mineral supplementation in children with inherited metabolic disorders: a prospective trial.
20162 citationsauthor #6
Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis
201641 citationsauthor #3
The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease
201646 citationsauthor #14
Clinical features and outcomes in multiple sulfatase deficiency: A single centre experience
20160 citationsauthor #7
How to use a controlled fast to investigate hypoglycaemia
20166 citationsauthor #5
Incidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver Failure
201644 citationsauthor #3
Long-term outcome of isobutyryl-CoA dehydrogenase deficiency diagnosed following an episode of ketotic hypoglycaemia
201614 citationsauthor #1
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency
2016282 citationsauthor #3
Cytosolic phosphoenolpyruvate carboxykinase deficiency presenting with acute liver failure following gastroenteritis.
201628 citationsauthor #1
Technical difficulties in the diagnosis of Krabbe leucodystrophy by enzyme analysis
20160 citationsauthor #3
Exome Sequencing and the Management of Neurometabolic Disorders.
2016294 citationsauthor #42
Response of 33 UK patients with infantile-onset Pompe disease to enzyme replacement therapy
201666 citationsauthor #11
ERRATUM: Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis
20160 citationsauthor #3
Successful long‐term outcome of liver transplantation in late‐onset lysosomal acid lipase deficiency
201617 citationsauthor #7
Clinical Features of Lysosomal Acid Lipase Deficiency
2015102 citationsauthor #12
Disease course after cessation of enzyme replacement therapy (ERT) in 5 patients with type II mucopolysaccharidosis (MPS II)
20150 citationsauthor #4
Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study.
2015121 citationsauthor #13
Long-term biomarker and cognitive follow-up of children with Hunter syndrome receiving intrathecal enzyme replacement therapy
20151 citationsauthor #8
The challenges of managing coexistent disorders with phenylketonuria: 30 cases.
201515 citationsauthor #22
A phase I/II study of intrathecal idursulfase-IT in children with severe mucopolysaccharidosis II
2015152 citationsauthor #6
Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency
201593 citationsauthor #5
Very early umbilical cord blood transplantation delays but does not prevent neurodegeneration in infantile Sandhoff disease
20150 citationsauthor #1
Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement
2015111 citationsauthor #9
Levomepromazine as a treatment for non-epileptic movement disorder in advanced neurodegenerative lysosomal disorders
20150 citationsauthor #1
Antibody response to investigational intrathecal enzyme replacement therapy with idursulfase-IT in pediatric Hunter syndrome patients with cognitive impairment
20150 citationsauthor #5
Desensitization to galsulfase for the treatment of recurrent infusion association reactions in a child with MPS VI
20151 citationsauthor #1
The Nutritional Intake of Patients with Organic Acidaemias on Enteral Tube Feeding: Can We Do Better?
201514 citationsauthor #4
Investigational intrathecal (IT) enzyme replacement therapy for the severe form of Hunter syndrome (mucopolysaccharidosis type II, MPS II)
20140 citationsauthor #9
An unusual phenotype of X‐linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene
201414 citationsauthor #5
Sustained elevations in LDL cholesterol and serum transaminases from early childhood are common in lysosomal acid lipase deficiency
201411 citationsauthor #13
Dyslipidemia and Sustained Transaminase Elevations from Early Childhood are Common in Lysosomal Acid Lipase Deficiency
20140 citationsauthor #13
Fucosidosis: the UK experience reflecting the natural history of this rare disorder
20140 citationsauthor #4
The Micronutrient Status of Patients with Phenylketonuria on Dietary Treatment: An Ongoing Challenge
201449 citationsauthor #5
Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood.
2014103 citationsauthor #6
I-cell disease: The experience of six centres
20130 citationsauthor #3
Intellectual functioning in children with MPS VI
20130 citationsauthor #5
Managing the Critically Ill Child: Inherited metabolic conditions
20130 citationsauthor #1
MTO1 Mutations are Associated with Hypertrophic Cardiomyopathy and Lactic Acidosis and Cause Respiratory Chain Deficiency in Humans and Yeast
201383 citationsauthor #9
A two-base-pairs deletion in the albumin gene causes a new case of analbuminemia
20129 citationsauthor #4
How to use acylcarnitine profiles to help diagnose inborn errors of metabolism
201014 citationsauthor #1

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