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Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS)

Journal of inherited metabolic disease, 2007-06, Vol.30 (3), p.375-387

2007

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Congenital disorder of glycosylation IId (CDG-IId) -- a new entity: clinical presentation with Dandy-Walker malformation and myopathy

Neuropediatrics, 2002-02, Vol.33 (1), p.27-32

2002

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Mutations in the Sepiapterin Reductase Gene Cause a Novel Tetrahydrobiopterin-Dependent Monoamine-Neurotransmitter Deficiency without Hyperphenylalaninemia

American journal of human genetics, 2001-08, Vol.69 (2), p.269-277

2001

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Variant of dihydropteridine reductase deficiency without hyperphenylalaninaemia: Effect of oral phenylalanine loading

Journal of inherited metabolic disease, 1999-05, Vol.22 (3), p.216-220

1999

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Compound heterozygosity for metachromatic leukodystrophy and arylsulfatase A pseudodeficiency alleles is not associated with progressive neurological disease

American journal of human genetics, 1993-03, Vol.52 (3), p.557-564

1993

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Cranial MRI changes may precede symptoms in Hallervorden-Spatz syndrome

Pediatric neurology, 2001-08, Vol.25 (2), p.166-169

2001

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Severe Hepatotoxicity During Valproate Therapy: An Update and Report of Eight New Fatalities

Epilepsia (Copenhagen), 1994-09, Vol.35 (5), p.1005-1015

1994

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Novel splice site mutation of aspartoacylase gene in a Turkish patient with Canavan disease

European journal of paediatric neurology, 2000-01, Vol.4 (1), p.27-30

2000

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Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders

European journal of human genetics : EJHG, 2013-10, Vol.21 (10), p.1074-1078

2013

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MRI in Smith-Lemli-Opitz syndrome type 1

Child's nervous system, 1997-10, Vol.13 (10), p.505-505

1997

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Medium-chain acyl-Coa dehydrogenase deficiency does not correlate with apparent life-threatening events and the sudden infant death syndrome : results from phenylpropionate loading tests and DNA analysis

European journal of pediatrics, 1994-05, Vol.153 (5), p.352-357

1994

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Does Migraine‐related Stroke Occur in Childhood?

Developmental medicine and child neurology, 1990-11, Vol.32 (11), p.1016-1021

1990

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Apolipoprotein C-III Isofocusing in the Diagnosis of Genetic Defects in O-Glycan Biosynthesis

Clinical chemistry (Baltimore, Md.), 2003-11, Vol.49 (11), p.1839-1845

2003

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4G4G genotype of the plasminogen activator inhibitor‐1 promoter polymorphism associates with disseminated intravascular coagulation in children with systemic meningococcemia

Journal of thrombosis and haemostasis, 2007-10, Vol.5 (10), p.2049-2054

2007

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The diagnosis of mitochondrial HMG-CoA synthase deficiency

The Journal of pediatrics, 2002-06, Vol.140 (6), p.778-780

2002

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Detection of Sepiapterin in CSF of Patients with Sepiapterin Reductase Deficiency

Molecular genetics and metabolism, 2002-02, Vol.75 (2), p.174-177

2002

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Failure to visualise renal artery stenosis secondary to neurofibromatosis 1 by Doppler ultrasound

Pediatric nephrology (Berlin, West), 1993-08, Vol.7 (4), p.507-507

1993

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Opsoclonus polymyoclonia syndrome

Acta Paediatrica, 1993-03, Vol.82 (3), p.319-320

1993

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Adult form of metachromatic leukodystrophy with predominantly psychotic manifestations

Nervenarzt, 1994-01, Vol.65 (1), p.73-73

1994

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Variability of epileptic seizure phenomenology in infants and children

Schweizerische Rundschau fur Medizin Praxis = Revue suisse de medecine Praxis, 1991-09, Vol.80 (36), p.899

1991

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Opsoclonus polymyoclonia syndrome

Acta paediatrica (Oslo, Norway : 1992), 1993, Vol.82 (3), p.319-320

1993

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Glomerulonephritis with transient C3 hypoclompimentemia and endotheliomesangial glomerulonephritis in childhood. A long-term experience

Schweizerische medizinische Wochenschrift, 1992-11, Vol.122 (47), p.1803

1992

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Reason to doubt the ICHD-3 7-day inclusion criterion for mild TBI-related posttraumatic headache: A nested cohort study

Cephalalgia, 2020-10, Vol.40 (11), p.1155-1167

2020

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Persistent posttraumatic headaches and functioning in veterans: Injury type can matter

Headache, 2021-10, Vol.61 (9), p.1334-1341

2021

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Well-Established and Empirically Supported Behavioral Treatments for Migraine

Current pain and headache reports, 2015-07, Vol.19 (7), p.34-34, Article 34

2015

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Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS)

Congenital disorder of glycosylation IId (CDG-IId) -- a new entity: clinical presentation with Dandy-Walker malformation and myopathy

Mutations in the Sepiapterin Reductase Gene Cause a Novel Tetrahydrobiopterin-Dependent Monoamine-Neurotransmitter Deficiency without Hyperphenylalaninemia

Variant of dihydropteridine reductase deficiency without hyperphenylalaninaemia: Effect of oral phenylalanine loading

Compound heterozygosity for metachromatic leukodystrophy and arylsulfatase A pseudodeficiency alleles is not associated with progressive neurological disease

Cranial MRI changes may precede symptoms in Hallervorden-Spatz syndrome

Severe Hepatotoxicity During Valproate Therapy: An Update and Report of Eight New Fatalities

Novel splice site mutation of aspartoacylase gene in a Turkish patient with Canavan disease

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders

MRI in Smith-Lemli-Opitz syndrome type 1

Medium-chain acyl-Coa dehydrogenase deficiency does not correlate with apparent life-threatening events and the sudden infant death syndrome : results from phenylpropionate loading tests and DNA analysis

Does Migraine‐related Stroke Occur in Childhood?

Apolipoprotein C-III Isofocusing in the Diagnosis of Genetic Defects in O-Glycan Biosynthesis

4G4G genotype of the plasminogen activator inhibitor‐1 promoter polymorphism associates with disseminated intravascular coagulation in children with systemic meningococcemia

The diagnosis of mitochondrial HMG-CoA synthase deficiency

Detection of Sepiapterin in CSF of Patients with Sepiapterin Reductase Deficiency

Failure to visualise renal artery stenosis secondary to neurofibromatosis 1 by Doppler ultrasound

Opsoclonus polymyoclonia syndrome

Adult form of metachromatic leukodystrophy with predominantly psychotic manifestations

Variability of epileptic seizure phenomenology in infants and children

Opsoclonus polymyoclonia syndrome

Glomerulonephritis with transient C3 hypoclompimentemia and endotheliomesangial glomerulonephritis in childhood. A long-term experience

Reason to doubt the ICHD-3 7-day inclusion criterion for mild TBI-related posttraumatic headache: A nested cohort study

Persistent posttraumatic headaches and functioning in veterans: Injury type can matter

Well-Established and Empirically Supported Behavioral Treatments for Migraine

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