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Guideline for the diagnosis and management of glutaryl‐CoA dehydrogenase deficiency (glutaric aciduria type I)

Journal of inherited metabolic disease, 2007-02, Vol.30 (1), p.5-22

2007

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Rescue of Infectious Recombinant Hazara Nairovirus from cDNA Reveals the Nucleocapsid Protein DQVD Caspase Cleavage Motif Performs an Essential Role other than Cleavage

Journal of virology, 2019-08, Vol.93 (15)

2019

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Dopa-responsive dystonia: A clinical and molecular genetic study

Annals of neurology, 1998-10, Vol.44 (4), p.649-656

1998

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Sleep in people with and without intellectual disabilities: a systematic review and meta‐analysis

Journal of intellectual disability research, 2024-01, Vol.68 (1), p.1-22

2024

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Hazara nairovirus elicits differential induction of apoptosis and nucleocapsid protein cleavage in mammalian and tick cells

Journal of general virology, 2019-03, Vol.100 (3), p.392-402

2019

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Liver transplantation for methylmalonic acidaemia

European journal of pediatrics, 1999-12, Vol.158 Suppl 2 (S2), p.S70-S074

1999

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Status epilepticus: pathophysiology, epidemiology, and outcomes

Archives of disease in childhood, 1998-07, Vol.79 (1), p.73-77

1998

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Dyskinesias and associated psychiatric disorders following streptococcal infections

Archives of disease in childhood, 2004-07, Vol.89 (7), p.604-610

2004

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The aetiology of neurological complications of organic acidaemias—A role for the blood–brain barrier

Journal of inherited metabolic disease, 2006-12, Vol.29 (6), p.701-704

2006

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Neonatal epileptic encephalopathy

The Lancet (British edition), 2003-05, Vol.361 (9369), p.1614-1614

2003

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Cerebrospinal fluid investigations for neurometabolic disorders

Neuropediatrics, 1998-04, Vol.29 (2), p.59-71

1998

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How broad is the phenotype of Hallervorden–Spatz disease?

Acta neurologica Scandinavica, 2001-03, Vol.103 (3), p.201-203

2001

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Upregulation of intercellular adhesion molecule-1 expression on human endothelial cells by tumour necrosis factor-α in an in vitro model of the blood–brain barrier

Brain research, 1999-06, Vol.830 (2), p.330-336

1999

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Guanidinoacetate methyltransferase deficiency: New clinical features

Pediatric neurology, 1997-09, Vol.17 (2), p.155-157

1997

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Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a new inborn error of neurotransmitter amine synthesis

Neurology, 1992-10, Vol.42 (10), p.1980-1980

1992

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Cerebrospinal fluid concentrations of pterins and metabolites of serotonin and dopamine in a pediatric reference population

Pediatric research, 1993-07, Vol.34 (1), p.10-14

1993

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Age Dependent Changes in the Cerebrospinal Fluid Concentration of Nitrite and Nitrate

Annals of clinical biochemistry, 1996-01, Vol.33 (1), p.71-72

1996

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Neurologic outcome of propionic acidemia

Pediatric neurology, 1992-09, Vol.8 (5), p.333-337

1992

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The role of growth hormone in stunted head growth after cranial irradiation

Pediatric research, 1987-10, Vol.22 (4), p.402-404

1987

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Growth Hormone Deficiency in One of Identical Twins

Acta Paediatrica, 1987-09, Vol.76 (5), p.837-838

1987

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Painful and painless ophthalmoplegia with cavernous sinus pseudotumour

Archives of disease in childhood, 1996-09, Vol.75 (3), p.239-241

1996

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Recessively Inherited L-DOPA-Responsive Parkinsonism In Infancy Caused by A Point Mutation (L205p) in the Tyrosine Hydroxylase Gene

Human molecular genetics, 1996-07, Vol.5 (7), p.1023-1028

1996

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Infantile Parkinsonism-dystonia and elevated dopamine metabolites in CSF

Neurology, 2004-05, Vol.62 (10), p.1872

2004

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Symptomatic and asymptomatic methylenetetrahydrofolate reductase deficiency in two adult brothers

American journal of medical genetics, 1993-03, Vol.45 (5), p.572-576

1993

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Post-streptococcal autoimmune dystonia with isolated bilateral striatal necrosis

Developmental medicine and child neurology, 2002-07, Vol.44 (7), p.485-489

2002

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Guideline for the diagnosis and management of glutaryl‐CoA dehydrogenase deficiency (glutaric aciduria type I)

Rescue of Infectious Recombinant Hazara Nairovirus from cDNA Reveals the Nucleocapsid Protein DQVD Caspase Cleavage Motif Performs an Essential Role other than Cleavage

Dopa-responsive dystonia: A clinical and molecular genetic study

Sleep in people with and without intellectual disabilities: a systematic review and meta‐analysis

Hazara nairovirus elicits differential induction of apoptosis and nucleocapsid protein cleavage in mammalian and tick cells

Liver transplantation for methylmalonic acidaemia

Status epilepticus: pathophysiology, epidemiology, and outcomes

Dyskinesias and associated psychiatric disorders following streptococcal infections

The aetiology of neurological complications of organic acidaemias—A role for the blood–brain barrier

Neonatal epileptic encephalopathy

Cerebrospinal fluid investigations for neurometabolic disorders

How broad is the phenotype of Hallervorden–Spatz disease?

Upregulation of intercellular adhesion molecule-1 expression on human endothelial cells by tumour necrosis factor-α in an in vitro model of the blood–brain barrier

Guanidinoacetate methyltransferase deficiency: New clinical features

Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a new inborn error of neurotransmitter amine synthesis

Cerebrospinal fluid concentrations of pterins and metabolites of serotonin and dopamine in a pediatric reference population

Age Dependent Changes in the Cerebrospinal Fluid Concentration of Nitrite and Nitrate

Neurologic outcome of propionic acidemia

The role of growth hormone in stunted head growth after cranial irradiation

Growth Hormone Deficiency in One of Identical Twins

Painful and painless ophthalmoplegia with cavernous sinus pseudotumour

Recessively Inherited L-DOPA-Responsive Parkinsonism In Infancy Caused by A Point Mutation (L205p) in the Tyrosine Hydroxylase Gene

Infantile Parkinsonism-dystonia and elevated dopamine metabolites in CSF

Symptomatic and asymptomatic methylenetetrahydrofolate reductase deficiency in two adult brothers

Post-streptococcal autoimmune dystonia with isolated bilateral striatal necrosis

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