(Q26864796)

inherited metabolic disorder

main subject

2 references

22 April 2019

2 October 2020

evidence-based medicine

1 reference

2 October 2020

1 reference

M. Alfadhel

1

1 reference

K. Al-Thihli

2

1 reference

H. Moubayed

3

1 reference

W. Eyaid

4

1 reference

M. Al-Jeraisy

5

1 reference

language of work or name

1 reference

June 2013

1 reference

Archives of Disease in Childhood

1 June 2013

2 references

22 April 2019

2 October 2020

3 references

22 April 2019

2 October 2020

98

1 reference

page(s)

454-61

1 reference

issue

6

1 reference

Creative Commons Attribution-NonCommercial

copyright license

2 references

22 April 2019

2 October 2020

on focus list of Wikimedia project

0 references

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

Evidence based medicine: what it is and what it isn't

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

Treatment of carnitine deficiency

21 March 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

21 March 2017

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2012-303131

Long-term clinical outcome in patients with glutathione synthetase deficiency

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

Alternative pathway therapy for urea cycle disorders: twenty years later

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

Flavin adenine dinucleotide status and the effects of high-dose riboflavin treatment in short-chain acyl-CoA dehydrogenase deficiency

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency

21 March 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

21 March 2017

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome)

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

Glutathione synthetase deficiency

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

Genotype, enzyme activity, glutathione level, and clinical phenotype in patients with glutathione synthetase deficiency

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

Dextromethorphan and high-dose benzoate therapy for nonketotic hyperglycinemia in an infant

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders.

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

Acute management of propionic acidemia.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

Chronic management and health supervision of individuals with propionic acidemia.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

Role of carglumic acid in the treatment of acute hyperammonemia due to N-acetylglutamate synthase deficiency

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

Coenzyme Q deficiency in muscle

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

Enzyme replacement therapy for Fabry disease: some answers but more questions

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

Diagnosis and management of glutaric aciduria type I--revised recommendations

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

Lysinuric protein intolerance: reviewing concepts on a multisystem disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

DNA methylation suppresses expression of the urea cycle enzyme carbamoyl phosphate synthetase 1 (CPS1) in human hepatocellular carcinoma.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

Treatment options for mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

Isolated remethylation disorders: do our treatments benefit patients?

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

A randomized study of alglucosidase alfa in late-onset Pompe's disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

Neonatal vitamin-responsive epileptic encephalopathies.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

L-serine synthesis in the central nervous system: a review on serine deficiency disorders

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

Reversible severe combined immunodeficiency phenotype secondary to a mutation of the proton-coupled folate transporter

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

A review of treatment of Pompe disease in infants

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

Biotin-responsive basal ganglia disease: case report and review of the literature.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

A critical approach to the therapy of mitochondrial respiratory chain and oxidative phosphorylation diseases

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

Carglumic acid: an additional therapy in the treatment of organic acidurias with hyperammonemia?

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

Idursulfase in Hunter syndrome treatment

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

Ophthalmic manifestations and histopathology of infantile nephropathic cystinosis: report of a case and review of the literature

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

Fabry disease: guidelines for the evaluation and management of multi-organ system involvement

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

B6-responsive disorders: a model of vitamin dependency

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

Treatment from birth of nonketotic hyperglycinemia due to a novel GLDC mutation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

Guidance on the use of miglustat for treating patients with type 1 Gaucher disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

An open-label, noncomparative study of miglustat in type I Gaucher disease: efficacy and tolerability over 24 months of treatment

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

Pyridoxine effect in type I primary hyperoxaluria is associated with the most common mutant allele

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

Cystinuria in childhood and adolescence: recommendations for diagnosis, treatment, and follow-up

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

Pharmacological treatment of nephropathic cystinosis with cysteamine

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

Poor outcome for neonatal-type nonketotic hyperglycinemia treated with high-dose sodium benzoate and dextromethorphan.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

Paediatric non-neuronopathic Gaucher disease: recommendations for treatment and monitoring

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

Steady-state pharmacokinetics and pharmacodynamics of cysteamine bitartrate in paediatric nephropathic cystinosis patients

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

Gaucher disease and the clinical experience with substrate reduction therapy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

Rare diseases and the assessment of intervention: what sorts of clinical trials can we use?

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

Enzyme replacement therapy in Fabry disease: a randomized controlled trial

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

Long-term management of patients with urea cycle disorders

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

Consensus statement from a conference for the management of patients with urea cycle disorders

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

Biochemical and clinical response to hydroxocobalamin versus cyanocobalamin treatment in patients with methylmalonic acidemia and homocystinuria (cblC).

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

N-Acetylglutamate synthetase deficiency responding to carbamylglutamate

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

Therapy of congenital folate malabsorption

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

Arginine, an indispensable amino acid for patients with inborn errors of urea synthesis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

Biotinidase deficiency: a survey of 10 cases

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

Outcome of thiamine treatment in a child with Leigh disease due to thiamine-responsive pyruvate dehydrogenase deficiency

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

Isovaleric acidemia: response to a leucine load after three weeks of supplementation with glycine, L-carnitine, and combined glycine-carnitine therapy

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

Long-term treatment of girls with ornithine transcarbamylase deficiency

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

A randomized placebo-controlled trial of cysteamine eye drops in nephropathic cystinosis

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

Nonketotic hyperglycinemia: Treatment with NMDA antagonist and consideration of neuropathogenesis

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

Treatment of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria). Experience with diet, riboflavin, and GABA analogue

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

A 25-year longitudinal analysis of treatment efficacy in inborn errors of metabolism.

31 May 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2012-303131

Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2012-303131

Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase).

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2012-303131

Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2012-303131

Long-term miglustat therapy in children with Niemann-Pick disease type C.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2012-303131

Four cases of neonatal non-ketotic hyperglycinaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2012-303131

Long-term use of high-dose benzoate and dextromethorphan for the treatment of nonketotic hyperglycinemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2012-303131

Neonatal type of nonketotic hyperglycinemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2012-303131

N-acetylglutamate synthetase deficiency: favourable experience with carbamylglutamate.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2012-303131

[N-carbamyl glutamate treatment in hyperammoniemia decompensated propionic acidaemia].

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2012-303131

Biochemical efficacy of N-carbamylglutamate in neonatal severe hyperammonaemia due to propionic acidaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2012-303131

Biotin-responsive basal ganglia disease: a treatable and reversible neurological disorder of childhood.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2012-303131

Biotin-responsive basal ganglia disease: a novel entity

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2012-303131

Hereditary folate malabsorption: family report and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2012-303131

Vitamin B6-responsive ornithine aminotransferase deficiency with a novel mutation G237D.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2012-303131

Riboflavin-responsive glutaryl CoA dehydrogenase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2012-303131

Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2012-303131

Diagnosis and treatment of maple syrup disease: a study of 36 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FARCHDISCHILD-2012-303131

Pharmacokinetic profile of recombinant human N-acetylgalactosamine 4-sulphatase enzyme replacement therapy in patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): a phase I/II study.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

Efficacy of low-dose dextromethorphan in the treatment of nonketotic hyperglycinemia.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

[Biotinidase deficiency. Progressive encephalopathy curable with biotin]

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

Ketamine and strychnine treatment of an infant with nonketotic hyperglycinaemia.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693126

L-carnitine and glycine therapy in isovaleric acidaemia

28 November 2018

1 reference

12 December 2020

Long-term treatment of congenital folate malabsorption

1 reference

12 December 2020

Oral vitamin B12 treatment of cobalamin-responsive methylmalonic aciduria

1 reference

12 December 2020

Riboflavin-responsive complex I deficiency

1 reference

12 December 2020

Partial N-acetylglutamate synthetase deficiency in a 13-year-old girl: diagnosis and response to treatment with N-carbamylglutamate

1 reference

12 December 2020

Enzyme replacement therapy for mucopolysaccharidosis VI: A phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, o

1 reference

12 December 2020

1 reference

12 December 2020

A case of late onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency manifesting as recurrent rhabdomyolysis and acute renal failure

1 reference

12 December 2020

Pyruvate dehydrogenase deficiency in a child responsive to thiamine treatment

1 reference

12 December 2020

Oral baclofen in children with cerebral palsy: a double-blind cross-over pilot study

1 reference

12 December 2020

Nutrient intake in lysinuric protein intolerance

1 reference

12 December 2020

Remethylation defects: guidelines for clinical diagnosis and treatment

1 reference

12 December 2020

Sapropterin (Kuvan) for phenylketonuria

1 reference

12 December 2020

A phase I/II clinical trial of enzyme replacement therapy in mucopolysaccharidosis II (Hunter syndrome)

1 reference

12 December 2020

Lysinuric protein intolerance presenting as childhood osteoporosis. Clinical and skeletal response to citrulline therapy

1 reference

12 December 2020

Agalsidase-beta therapy for advanced Fabry disease: a randomized trial

1 reference

12 December 2020

Oral administration of arginine enhances the growth hormone response to growth hormone releasing hormone in short children

1 reference

12 December 2020

A new neonatal case of N-acetylglutamate synthase deficiency treated by carbamylglutamate

1 reference

12 December 2020

Therapeutic approaches to cobalamin-C methylmalonic acidemia and homocystinuria

1 reference

12 December 2020

The primary hyperoxalurias

1 reference

12 December 2020