P. Barth

M. Caan, C. Majoie, B. Poll-The, 2014, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Low dehydroepiandrosterone sulphate (DHEAS) levels in X‐linked adrenoleukodystrophy

P. Barth, P. Barth, J. Assies, 1998, Clinical endocrinology.

Phenotypic variation in leukoencephalopathy with vanishing white matter

J. Valk, W. Kamphorst, M. S. van der Knaap, 1998, Neurology.

Quantitative and compositional study of cardiolipin in platelets by electrospray ionization mass spectrometry: application for the identification of Barth syndrome patients.

R. Wanders, F. Valianpour, P. Barth, 2002, Clinical chemistry.

Delay in diagnosis of X-linked adrenoleukodystrophy

R. Schutgens, P. Barth, R. Wanders, 1993, Clinical Neurology and Neurosurgery.

Joubert syndrome: a clinical and pathological description of an affected male and a female fetus from the same sibship.

P. Barth, D. V. van Dorp, M. Kwee, 1991, American journal of medical genetics.

DMO04 Pontine tegmental cap dysplasia: a novel brain malformation with a defect in axonal guidance

F. Baas, M. Caan, C. Majoie, 2007 .

r r 6 6 PTENPTEN Hamartoma Tumor Syndrome : variabilityy of an entity

R. Hennekam, L. S. Vries, C. Eng, 2007 .

PTEN hamartoma tumour syndrome: variability of an entity

R. Hennekam, L. D. de Vries, C. Eng, 2003, Journal of medical genetics.

Etiology of mental retardation in children referred to a tertiary care center: a prospective study.

R. Hennekam, C. V. van Karnebeek, P. Barth, 2005, American journal of mental retardation : AJMR.

Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28.

F. Baas, P. Barth, P. Bolhuis, 1991, American journal of human genetics.

Cerebellar hypoplasia in respiratory chain dysfunction.

R. Wanders, L. Nijtmans, P. Barth, 1996, Neuropediatrics.

Olivo-ponto-cerebellar atrophy with muscular atrophy, joint contractures and pulmonary hypoplasia of prenatal onset

P. Barth, P. Moerman, 2004, Virchows Archiv A.

Clinical and biochemical spectrum of D‐bifunctional protein deficiency

S. Ferdinandusse, S. Denis, M. Durán, 2006, Annals of neurology.

Aicardi‐Goutières syndrome: An update and results of interferon‐α studies

J. Aicardi, P. Lebon, P. Barth, 1998, Annals of neurology.

X‐linked cardioskeletal myopathy and neutropenia (Barth syndrome): An update

M. Durán, R. Wanders, F. Valianpour, 2004, American journal of medical genetics. Part A.

Discordant infantile encephalopathy with symmetrical thalamic calcifications in identical twins.

M. S. van der Knaap, P. Barth, 1994, American journal of medical genetics.

Scientific Meeting of the Amsterdamsche Neurologenvereeniging held in Amsterdam, 6th February 1986

B. O. D. Visser, H. V. Crevel, M. Vermeulen, 1986, Clinical Neurology and Neurosurgery.

Alexander disease: diagnosis with MR imaging.

J. Valk, H. Stroink, M. Knaap, 2001, AJNR. American journal of neuroradiology.

Peroxisome biogenesis disorders: identification of a new complementation group distinct from peroxisome-deficient CHO mutants and not complemented by human PEX 13.

R. Wanders, A. Imamura, Y. Suzuki, 1998, Biochemical and biophysical research communications.

Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children

J. Valk, H. Stroink, W. Arts, 1995, Annals of neurology.

X chromosome inactivation in carriers of Barth syndrome.

D. Toniolo, A. Naumova, P. Barth, 1998, American journal of human genetics.

Pontocerebellar hypoplasia--how many types?

P. Barth, 2000, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Pontocerebellar hypoplasia associated with respiratory-chain defects.

G. Jansen, L. D. de Vries, F. Groenendaal, 1999, Neuropediatrics.

Disorders of Sphingolipid Metabolism

P. Barth, 2000 .

Congenital muscular dystrophy and cerebral dysgenesis in a Dutch family.

F. Stam, P. Barth, J. Slooff, 1980, Neuropadiatrie.

Carbohydrate-deficient glycoprotein syndrome type 1a: a variant phenotype with borderline cognitive dysfunction, cerebellar hypoplasia, and coagulation disturbances.

P. Vreken, R. Wanders, J. Jaeken, 2000, The Journal of pediatrics.

Neuroimaging of peroxisome biogenesis disorders (Zellweger spectrum) with prolonged survival

H. Waterham, C. Majoie, B. Poll-The, 2004, Neurology.

Abnormal expression of intermediate filament proteins in X-linked myotubular myopathy is not reproduced in vitro

P. Jap, P. Barth, R. Sengers, 1995, Neuromuscular Disorders.

Genotype‐phenotype correlation in PEX5‐deficient peroxisome biogenesis defective cell lines

H. Waterham, R. Wanders, F. Eyskens, 2009, Human mutation.

Functional heterogeneity of C-terminal peroxisome targeting signal 1 in PEX5-defective patients.

R. Wanders, R. Wanders, T. Tsukamoto, 1999, Biochemical and biophysical research communications.

Spastic diplegia and periventricular white matter abnormalities in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, a defect of isoleucine metabolism: differential diagnosis with hypoxic-ischemic brain diseases.

R. Wanders, M. Durán, C. Majoie, 2004, Molecular genetics and metabolism.

Leukoencephalopathy with swelling in children and adolescents: MRI patterns and differential diagnosis

B. Engelen, P. Barth, L. Smit, 1995, Neuroradiology.

CHAPTERR 5 Cardiolipi nn deficiency in X-linked cardioskeletal myopathy and neutropenia ( Barthh syndrome , MIM 302060 ) : a study in cultured skin fibroblasts

P. Vreken, F. Baas, R. Wanders, 2007 .

The effect of linoleic acid supplementation on cardiolipin levels in fibroblasts of patients suffering from Barth syndrome; implications for treatment

R. Wanders, R. Wanders, F. Vaz, 2002 .

X-linked cardioskeletal myopathy and neutropenia (Barth syndrome)-MIM 302060.

P. Vreken, R. Wanders, P. Barth, 1999, The Journal of pediatrics.

Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis Published, JLR Papers in Press, April 1, 2005. DOI 10.1194/jlr.M500056-JLR200

A. Munnich, J. Towbin, R. Wanders, 2005, Journal of Lipid Research.

Predominance of the adrenomyeloneuropathy phenotype of X‐linked adrenoleukody strophy in the Netherlands

G. Weverling, P. Barth, J. Assies, 1994, Neurology.

Clinical and biochemical characteristics of peroxisomal disorders: an update

R. Wanders, R. Schutgens, P. Barth, 2005, European Journal of Pediatrics.

Magnetic resonance imaging in classification of congenital muscular dystrophies with brain abnormalities

C. Catsman-Berrevoets, M. S. van der Knaap, P. Barth, 1997, Annals of neurology.

X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): Respiratory-chain abnormalities in cultured fibroblasts

R. Schutgens, A. Ketel, P. Barth, 1996, Journal of Inherited Metabolic Disease.

Immunophenotyping of congenital myopathies: disorganization of sarcomeric, cytoskeletal and extracellular matrix proteins

I. Nonaka, H. Laak, P. Jap, 1995, Journal of the Neurological Sciences.

Gliomatosis cerebri in a newborn.

H. Delemarre-van de Waal, F. Stam, P. Barth, 1988, Neuropediatrics.

Signs of testicular insufficiency in adrenomyeloneuropathy and neurologically asymptomatic X-linked adrenoleukodystrophy: a retrospective study.

L. Gooren, P. Barth, B. Geel, 1997, International journal of andrology.

Familial porencephalic white matter disease in two generations

J. Valk, C. Njiokiktjien, P. Barth, 1984, Brain and Development.

Chromosome 16 microdeletion in a patient with juvenile neuronal ceroid lipofuscinosis (Batten disease).

M. Breuning, P. Barth, S. Mole, 1995, American journal of human genetics.

Lissencephaly with Extreme Cerebral and Cerebellar Hypoplasia. A Magnetic Resonance Imaging Study

R. Hennekam, P. Barth, B. Smit, 1996, Neuropediatrics.

Two intronic mutations in the adrenoleukodystrophy gene

B. V. van Oost, M. Ligtenberg, P. Barth, 1995, Human mutation.

Deregulated expression of EZH2 in congenital brainstem disconnection

F. Baas, E. Aronica, B. Harding, 2017, Neuropathology and applied neurobiology.

A male infant with holoprosencephaly, associated with ring chromosome 21

P. Barth, D. Aronson, J. Hoovers, 1987, Clinical genetics.

Subependymal nodular heterotopia in patients with encephalocele.

P. Barth, F. Roelens, J. van der Harten, 1999, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Central Cortico‐Subcortical Involvement: A Distinct Pattern of Brain Damage Caused by Perinatal and Postnatal Asphyxia in Term Infants

J. Valk, M. S. van der Knaap, P. Barth, 1995, Journal of computer assisted tomography.

Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21.

C. Woods, J. Tolmie, H. Brunner, 2000, American journal of human genetics.

The visual evoked potential in the first six years of life.

S. L. Visser, J. Blom, P. Barth, 1980, Electroencephalography and clinical neurophysiology.

Sequential MR imaging changes in nonketotic hyperglycinemia.

M. Durán, B. Poll-The, P. Barth, 2006, AJNR. American journal of neuroradiology.

Peroxisomal disorders: a review.

R. Wanders, R. Schutgens, P. Barth, 1995, Journal of neuropathology and experimental neurology.

Ultrastructure of the liver in th cerebrohepatorenal syndrome of Zellweger.

W. Mooi, H. Heymans, P. Barth, 1983, Ultrastructural pathology.

Glutaryl-coenzyme A dehydrogenase deficiency: a distinct encephalopathy.

F. Hanefeld, H. Bremer, C. Roe, 1991, Pediatrics.

Organoid nevus syndrome (linear nevus sebaceus of Jadassohn): clinical and radiological study of a case.

P. Barth, G. L. Kalsbeek, J. Valk, 1977, Neuropadiatrie.

Epidermal nevus syndrome with isolated enlargement of one temporal lobe: a case report

P. Barth, V. Kwa, B. Verbeeten, 1995, Brain and Development.

MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata

M. Durán, B. Poll-The, P. Barth, 2006, Neurology.

Disorders of Neuronal Migration

P. Barth, P G Barth, 1987, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Paucity of secondary synaptic clefts in a case of congenital myasthenia with multiple contractures: ultrastructural morphology of a developmental disorder.

P. Barth, F. Jennekens, L. Smit, 1984, Journal of neurology, neurosurgery, and psychiatry.

The eye as a window to inborn errors of metabolism

M. Durán, B. Poll-The, P. Barth, 2003, Journal of Inherited Metabolic Disease.

POMT2 mutations cause α-dystroglycan hypoglycosylation and Walker-Warburg syndrome

M. Huynen, C. Walsh, F. Muntoni, 2005, Journal of Medical Genetics.

Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I

P. Barth, J. Loeffen, R. Smeets, 1999, Annals of neurology.

A sibship with a mild variant of Zellweger syndrome

H. Moser, R. Wanders, R. Schutgens, 1987, Journal of Inherited Metabolic Disease.

A milder variant of Zellweger syndrome

H. Heymans, P. Barth, J. V. Moorsel, 1985, European Journal of Pediatrics.

A mild variant of Zellweger syndrome

H. Heymans, P. Barth, R. Schutgens, 1985, Clinical Neurology and Neurosurgery.

Dutch Patients with Progressive Encephalopathy with Edema, Hypsarrhythmia, and Optic Atrophy (PEHO) Syndrome

S. Vanhatalo, P. Barth, M. Somer, 2002, Neuropediatrics.

Elongation of very long-chain fatty acids is enhanced in X-linked adrenoleukodystrophy.

S. Denis, R. Wanders, F. Valianpour, 2005, Molecular genetics and metabolism.

Progression of abnormalities in adrenomyeloneuropathy and neurologically asymptomatic X-linked adrenoleukodystrophy despite treatment with “Lorenzo’s oil”

R. Wanders, P. Barth, R. Wanders, 1999, Journal of neurology, neurosurgery, and psychiatry.

Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood

S. Ferdinandusse, H. Waterham, C. Majoie, 2015, Journal of Inherited Metabolic Disease.

Peroxisome biogenesis disorders with prolonged survival: Phenotypic expression in a cohort of 31 patients

H. Waterham, R. Wanders, M. Durán, 2004, American journal of medical genetics. Part A.

Biochemical markers predicting survival in peroxisome biogenesis disorders

H. Waterham, R. Wanders, B. Poll-The, 2002, Neurology.

R. Wanders, R. Schutgens, H. Heymans, 1987, Clinica chimica acta; international journal of clinical chemistry.

Non-rhizomelic and rhizomelic chondrodysplasia punctata within a single complementation group.

H. Tabak, R. Wanders, B. Poll-The, 1996, Biochimica et biophysica acta.

Variant rhizomelic chondrodysplasia punctata (RCDP) with normal plasma phytanic acid: clinico-biochemical delineation of a subtype and complementation studies.

R. Wanders, R. Schutgens, P. Barth, 1996, American journal of medical genetics.

Limb-girdle muscular dystrophy in the Netherlands: Gene defect identified in half the families

F. Spaans, P. Barth, A. Wintzen, 2007, Neurology.

The clinical spectrum of limb girdle muscular dystrophy. A survey in The Netherlands.

G. van Ommen, R. D. de Haan, P. Jongen, 1996, Brain : a journal of neurology.

Mutation Update: The Spectra of Nebulin Variants and Associated Myopathies

Jocelyn Laporte, Carol J. Saunders, K. Pelin, 2014, Human mutation.

UvA-DARE ( Digital Academic Repository ) X linked adrenoleukodystrophy : clinical presentation , diagnosis , and therapy

R. Wanders, P. Barth, J. Assies, 1998 .

X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy

P. Barth, R. Wanders, J. Assies, 1997, Journal of neurology, neurosurgery, and psychiatry.

Inherited syndrome of microcephaly, dyskinesia and pontocerebellar hypoplasia: A systemic atrophy with early onset

H. Uylings, G. Vrensen, F. Stam, 1990, Journal of the Neurological Sciences.

UvA-DARE ( Digital Academic Repository ) Classification , diagnosis and potential mechanisms in pontocerebellar hypoplasia

F. Baas, B. Poll-The, P. Barth, 2017 .

UvA-DARE ( Digital Academic Repository ) Molecular biology and pharmacogenetics of x-linked adrenoleukodystrophy

Link, J. Mandel, P. Barth, 2012 .

Peroxisomal β-oxidation defect with detectable peroxisomes: A case with neonatal onset and progressive course

R. Wanders, R. Schutgens, P. Barth, 1990, European Journal of Pediatrics.

A family with severe X-linked arthrogryposis

R. Hennekam, P. Barth, K. Dingemans, 1991, European Journal of Pediatrics.

Chromosome16Microdeletion ina Patient withJuvenile Neuronal CeroidLipofuscinosis (Batten Disease)

P. Taschner, P. Barth, H. Breuning, 1995 .

Mosaic tetrasomy 21 in a male child

F. Arwert, P. Barth, M. L. Kwee, 1984, Clinical genetics.

High incidence of hyperoxaluria in generalized peroxisomal disorders.

R. Wanders, M. Durán, B. Poll-The, 2006, Molecular genetics and metabolism.

Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor‐2) gene in patients with peroxisome biogenesis disorders

H. Moser, R. Wanders, G. Besley, 1999, Human mutation.

Pelizaeus-Merzbacher Disease

P. Barth, J. C. Koetsveld-Baart, J. Valk, 1995 .

Limb girdle muscular dystrophy: A pathological and immunohistochemical reevaluation

P. Barth, A. J. van der Kooi, M. de Visser, 1998, Muscle & nerve.

Limb girdle muscular dystrophy: reappraisal of a rejected entity

P. Barth, M. Visser, A. V. D. Kooi, 1994, Clinical Neurology and Neurosurgery.

Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy.

F. Baas, E. Aronica, C. Angelini, 2013, Brain : a journal of neurology.

Familial mitochondrial encephalopathy with fetal ultrasonographic ventriculomegaly and intracerebral calcifications

J. D. Vries, P. Barth, F. Menko, 1994, European Journal of Pediatrics.

Neutrophils in Barth syndrome (BTHS) avidly bind annexin-V in the absence of apoptosis.

F. Baas, R. Wanders, T. Kuijpers, 2004, Blood.

X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060)

P. Vreken, F. Baas, R. Wanders, 1999, Journal of Inherited Metabolic Disease.

Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts.

P. Vreken, F. Baas, R. Wanders, 2002, The Journal of pediatrics.

Tuberous sclerosis and dysplasia of the corpus callosum. case report of their combined occurrence in a newborn

F. Stam, P. Barth, J. Harten, 1978, Acta Neuropathologica.

Prenatal clastic encephalopathies

P. Barth, Peter G. Barth, 1984, Clinical Neurology and Neurosurgery.

What’s new in pontocerebellar hypoplasia? An update on genes and subtypes

F. Baas, B. Poll-The, P. Barth, 2018, Orphanet Journal of Rare Diseases.

Hereditary fetal brain degeneration resembling fetal brain disruption sequence in two sibships

P. Barth, K. Sollie, H. Kroes, 2004, American journal of medical genetics. Part A.

Late onset white matter disease in peroxisome biogenesis disorder

P. Vreken, C. Majoie, P. Barth, 2001, Neurology.

UvA-DARE ( Digital Academic Repository ) Collagen VI mutations in Bethlem myopathy

P. Barth, M. de Visser, J. Boers, 2012 .

The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies.

A. Clarke, C. Wallgren‐Pettersson, V. Dubowitz, 1995, Journal of medical genetics.

X-linked recessive congenital muscle fiber hypotrophy with central nuclei: abnormalities of growth and adenylate cyclase in muscle tissue cultures.

W. Engel, P. Barth, V. Askanas, 1979, Archives of neurology.

X‐linked myotubular myopathy with fatal neonatal asphyxia

P. Barth, J. Bethlem, G. V. van Wijngaarden, 1975, Neurology.

The gene for X-linked myotubular myopathy is located in an 8 Mb region at the border of Xq27.3 and Xq28

F. Baas, B. Hamel, P. Barth, 1994, Neuromuscular Disorders.

X-linked myotubular myopathy--a long-term follow-up study.

V. Dubowitz, P. Barth, Peter G. Barth, 1998, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

A de novo missense mutation in the inositol 1,4,5‐triphosphate receptor type 1 gene causing severe pontine and cerebellar hypoplasia: Expanding the phenotype of ITPR1‐related spinocerebellar ataxia's

F. Baas, L. Reneman, B. Poll-The, 2017, American journal of medical genetics. Part A.

Diagnostic Features And Clinical Signs Of 21 Patients With Lissencephaly Type I

W. Arts, P. Barth, M. Loonen, 1990, Developmental medicine and child neurology.

The neurology of rhizomelic chondrodysplasia punctata

H. Waterham, B. Poll-The, P. Barth, 2013, Orphanet Journal of Rare Diseases.

The Hoyeraal-Hreidarsson syndrome: The fourth case of a separate entity with prenatal growth retardation, progressive pancytopenia and cerebellar hypoplasia

R. Hennekam, H. Berg, P. Barth, 1995, European Journal of Pediatrics.

The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.

E. Haan, A. Green, S. Bione, 1997, American journal of human genetics.

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

Ingeborg Krägeloh-Mann, Francesco Muntoni, Peter Nürnberg, 2008, Nature Genetics.

Pontocerebellar hypoplasia

K. Zerres, S. Rudnik-Schöneborn, P. Barth, 2014, American journal of medical genetics. Part C, Seminars in medical genetics.

Natural course of pontocerebellar hypoplasia type 2A

I. Krägeloh-Mann, P. Barth, M. Steinlin, 2014, Orphanet Journal of Rare Diseases.

Cerebellar dentate dysplasia

P. Barth, 2011, Brain and Development.

TSEN54 mutations cause pontocerebellar hypoplasia type 5

F. Ruissen, F. Baas, D. Chitayat, 2011, European Journal of Human Genetics.

Pontocerebellar hypoplasia type 2: a neuropathological update

W. Scheper, E. Aronica, D. Troost, 2007, Acta Neuropathologica.

Pontocerebellar hypoplasias An overview of a group of inherited neurodegenerative disorders with fetal onset

Peter G. Barth, P. Barth, 1993, Brain and Development.

A new leukoencephalopathy with vanishing white matter

F. Gabreëls, J. Valk, H. Stroink, 1997, Neurology.

Intra-uterine tachycardia associated with multicystic encephalomalacia (MCE).

P. Barth, A. Moulaert, B. Cats, 1985, European journal of obstetrics, gynecology, and reproductive biology.

An infant with marfanoid phenotype and congenital contractures associated with ocular and cardiovascular anomalies, cerebral white matter hypoplasia and spinal axonopathy

H. Berg, P. Barth, P. Tamminga, 2004, European Journal of Pediatrics.

Autosomal dominant cerebellar ataxia with retinal degeneration ( ADCA II ) : clinical and neuropathological findings in two pedigrees and genetic linkage to 3 p 1 2p 2 1 . 1

F. Baas, D. Troost, J. J. van Hilten, 2003 .

Interhemispheral neuroepithelial (glio-ependymal) cysts, associated with agenesis of the corpus callosum and neocortical maldevelopment. A case study.

H. Uylings, F. Stam, P. Barth, 1984, Child's brain.

Histopathology of an infantile-onset spongiform leukoencephalopathy with a discrepantly mild clinical course

J. Valk, M. Knaap, G. Vrensen, 1996, Acta Neuropathologica.

EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations

T. Hortobágyi, F. Baas, E. Aronica, 2014, Orphanet Journal of Rare Diseases.

Clinical effects of serine medication in non-ketotic hyperglycinaemia due to deficiency of p-protein of the glycine cleavage complex

R. Schutgens, K. Tada, P. Barth, 1988, Journal of Inherited Metabolic Disease.

Cerebral gigantism (Sotos syndrome). Compiled data of 22 cases

J. Wit, F. Beemer, P. Barth, 1985, European Journal of Pediatrics.

The heart in limb girdle muscular dystrophy

P. Jongen, P. Barth, F. Jennekens, 1998, Heart.

Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy

A. Moorman, C. Bönnemann, E. Bakker, 1997, Neuromuscular Disorders.

Pontine tegmental cap dysplasia: a novel brain malformation with a defect in axonal guidance.

F. Baas, M. Caan, C. Majoie, 2007, Brain : a journal of neurology.

Congenital muscular dystrophy and severe central nervous system atrophy in two siblings

F. Gabreëls, P. Barth, H. Laak, 2004, Acta Neuropathologica.

Macrocephaly: an important indication for organic acid analysis

J. Valk, H. Bremer, E. Christensen, 1991, Journal of Inherited Metabolic Disease.

Ring-18 and isopseudodicentric-18 in the same child: a hypothesis to account for common origin.

P. Barth, L. Vlasveld, K. Madan, 1981, Annales de genetique.

Lorenzo's oil and platelet activation in adrenomyeloneuropathy and asymptomatic X-linked adrenoleukodystrophy.

R. Schutgens, A. Konijnenberg, A. Sturk, 1998, Platelets.

Only One Splice Variant of the Human TAZ Gene Encodes a Functional Protein with a Role in Cardiolipin Metabolism*

Ronald J A Wanders, Fredoen Valianpour, R. Wanders, 2003, Journal of Biological Chemistry.

Cultured human muscle cells and respiratory chain deficiencies

P. Barth, P. Bolhuis, N. H. Herzberg, 1994, Neuromuscular Disorders.

Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature

M. Durán, R. Wevers, S. Wortmann, 2013, Journal of Inherited Metabolic Disease.

Axonal dystrophy in a case of connatal thalamic and brain stem degeneration

P. Barth, F. Jennekens, H. Veldman, 2004, Acta Neuropathologica.

Identification of a two base pair deletion in five unrelated families with adrenoleukodystrophy: a possible hot spot for mutations.

B. V. van Oost, J. Mandel, M. Ligtenberg, 1994, Biochemical and biophysical research communications.

ALDP expression in fibroblasts of patients with X-linked adrenoleukodystrophy

R. Wanders, J. Mandel, P. Barth, 1996, Journal of Inherited Metabolic Disease.

Peripheral nerve abnormalities in adrenomyeloneuropathy

P. Barth, J. Koelman, B. Geel, 1996, Neurology.

Parabiotic twin syndrome with topical isocortical disruption and gastroschisis

P. Barth, J. Harten, 2004, Acta Neuropathologica.

Aicardi-Goutières syndrome: an update and results of interferon-alpha studies.

J. Aicardi, P. Lebon, P. Barth, 1998, Annals of neurology.

Congenital multiple angiomatosis with brain involvement.

F. Stam, P. Barth, L. Smit, 1981, Child's brain.

X-linked cardioskeletal myopathy and neutropenia

P. Barth, 2004 .

Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduria.

I. Dianzani, R. Schutgens, K. Gibson, 1991, The Journal of pediatrics.

Altered kinetics of cytochrome c oxidase in a patient with severe mitochondrial encephalomyopathy.

R. Zwart, R. Wanders, L. Nijtmans, 1995, Biochimica et biophysica acta.

Review article Cerebellar dentate dysplasia

P. Barth, 2011 .

Leigh syndrome associated with a deficiency of the pyruvate dehydrogenase complex: results of treatment with a ketogenic diet.

D. Turnbull, R. Schutgens, L. Bindoff, 1992, Neuropediatrics.

Linoleic acid supplementation of Barth syndrome fibroblasts restores cardiolipin levels: implications for treatment.

R. Wanders, F. Vaz, F. Valianpour, 2003, Journal of lipid research.

L‐2‐hydroxyglutaric acidemia: A novel inherited neurometabolic disease

J. Valk, H. Hartung, M. Durán, 1992, Annals of neurology.

The neuropathology of Aicardi-Goutières syndrome.

P. Barth, 2002, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Aicardi-Goutières syndrome: a genetic microangiopathy?

P. Barth, I. van Gelderen, A. Walter, 1999, Acta Neuropathologica.

Aicardi-Goutières syndrome

P. Barth, Daniel Wong, Dhruv Jhunjhnuwala, 2020, Definitions.

THE NEUROPATHOLOGY OF AICARDI-GOUTIÈRES SYNDROME - A REVIEW

P. Barth, 2005 .

Cerebral, cerebellar, and colobomatous anomalies in three related males: Sex‐linked inheritance in a newly recognized syndrome with features overlapping with Joubert syndrome

C. Bergmann, R. Nievelstein, F. Beemer, 2005, American journal of medical genetics. Part A.

L-2-Hydroxyglutaric aciduria and lactic acidosis

P. Vreken, R. Wanders, R. Schutgens, 1998, Journal of Inherited Metabolic Disease.

Congenital brainstem disconnection associated with a syrinx of the brainstem.

D. Troost, L. D. de Vries, P. Barth, 2008, Neuropediatrics.

Inherited Progressive Disorders of the Fetal Brain: A Field in Need of Recognition

P. Barth, 1992 .

l-2-Hydroxyglutaric acidaemia: Clinical and biochemical findings in 12 patients and preliminary report onl-2-hydroxyacid dehydrogenase

H. Hartung, M. Durán, F. Hanefeld, 1993, Journal of Inherited Metabolic Disease.

2-Hydroxyglutaric acidurias commentary to Sugito's paper (Brain Dev 1995;17: 139-41)

P. Barth, 1995, Brain and Development.

F. Baas, P. Barth, V. Eggens, 2014 .

LETTER TO THE EDITOR Reply: Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4

F. Baas, P. Barth, Y. Namavar, 2012 .

Infantile fibre type disproportion, myofibrillar lysis and cardiomyopathy: a disorder in three unrelated Dutch families

M. Durán, C. Roe, P. Barth, 1998, Neuromuscular Disorders.

The neurology of rhizomelic chondrodysplasia punctata

H. Waterham, B. Poll-The, P. Barth, 2013 .

Visual evoked potential characteristics and early diagnosis of Pelizaeus-Merzbacher disease.

P. Apkarian, P. Barth, J. C. Koetsveld-Baart, 1993, Archives of neurology.

Migrational disorders of the brain.

P. Barth, 1992, Current opinion in neurology and neurosurgery.

Cerebral palsy and pyruvate dehydrogenase deficiency: identification of two new mutations in the E1α gene

P. Vreken, S. Seneca, R. Wanders, 1999, European Journal of Pediatrics.

Peroxisomes and peroxisomal functions in muscle. Studies with muscle cells from controls and a patient with the cerebro-hepato-renal (Zellweger) syndrome.

R. Wanders, R. Schutgens, P. Barth, 1987, Experimental Cell Research.

Schilder's diffuse sclerosis: case study with three years' follow-up and neuro-imaging.

P. Barth, P. Theunissen, M. D. de Krom, 1989, Neuropediatrics.

Some variants of lethal neonatal short‐limbed platyspondylic dysplasia: a radiological ultrasonographic, neuropathological and histopathological study of 22 cases

C. Meijer, H. V. van Geijn, P. Barth, 1993, Clinical dysmorphology.

The syndrome of autosornal recessive pontocerebellar hypoplasia, microcephaly, and extrapyramidal dyskinesia (pontocerebellar hypoplasia type 2)

F. Hanefeld, H. Lenard, P. Barth, 1995, Neurology.

Aromatic L-amino acid decarboxylase deficiency: A new case with a mild clinical presentation and unexpected laboratory findings

P. Barth, N. Abeling, F. Wijburg, 1998, Journal of Inherited Metabolic Disease.

Porencephaly and schizencephaly in adopted infants Frequency ascertainment in a risk group

J. Valk, P. Barth, J. Gerver, 1987, Clinical Neurology and Neurosurgery.

Commentary-----------------------------Schizencephaly and Nonlissencephalic Cortical Dysplasias

P. Barth, 2013 .

A Unique Achiasmatic Anomaly Detected in Non‐albinos with Misrouted Retinal‐fugal Projections

P Apkarian, L. Bour, P. Apkarian, 1994, The European journal of neuroscience.

Ectopic peripontine arcuate fibers, a novel finding in pontine tegmental cap dysplasia

B. Poll-The, P. Barth, C. Majoie, 2013 .

The inborn errors of peroxisomal beta-oxidation: a review.

R. Wanders, R. Schutgens, H. Heymans, 1990, Journal of inherited metabolic disease.

The Joubert syndrome associated with bilateral chorioretinal coloboma

D. Lindhout, P. Barth, R. Pfeiffer, 1981, European Journal of Pediatrics.

Understanding the life experience of Barth syndrome from the perspective of adults: a qualitative one-on-one interview study

A. Shields, J. Powers, P. Barth, 2019, Orphanet Journal of Rare Diseases.

The Joubert Syndrome associated with bilateral chorioretinal coloboma

D. Lindhout, P. Barth, T. N. Boen-Tan, 1980, European Journal of Pediatrics.

Neonatal Diffusion-Weighted MR Imaging: Relation with Histopathology or Follow-Up MR Examination

L. D. de Vries, F. Groenendaal, J. van der Grond, 2001, Neuropediatrics.

Metallothionein in Menkes' disease: Induction in cultured muscle cells

P. Barth, P. Bolhuis, R. Wolterman, 1990, Journal of the Neurological Sciences.

Peroxisomal biogenesis disorder: comparison of conventional MR imaging with diffusion-weighted and diffusion-tensor imaging findings.

G. D. den Heeten, C. Majoie, B. Poll-The, 2004, AJNR. American journal of neuroradiology.

Aicardi-Goutikres Syndrome: An Update and Results

J. Aicardi, P. Lebon, P. Barth, 2004 .

Molybdenum-Cofactor Deficiency: An Easily Missed Cause of Neonatal Convulsions

H. Slot, P. Barth, P. Tamminga, 1993, Neuropediatrics.

Analysis of plasmenylethanolamines using electrospray tandem mass spectrometry and its application in screening for peroxisomal disorders

P. Vreken, R. Wanders, F. Valianpour, 2000, Journal of Inherited Metabolic Disease.

Vitamin C Treatment in Menkes’ Disease: Failure to Affect Biochemical and Clinical Parameters

P. Barth, N. Abeling, F. Wijburg, 1989, Journal of Inherited Metabolic Disease.

The spectrum of cranial ultrasound and magnetic resonance imaging abnormalities in congenital cytomegalovirus infection.

L. D. de Vries, F. Groenendaal, P. Barth, 2004, Neuropediatrics.

Ependymal Abnormalities in Lissencephaly/Pachygyria

H. Darwish, P. Barth, M. Ōsawa, 1993, Journal of neuropathology and experimental neurology.

UvA-DARE ( Digital Academic Repository ) A mass spectrometric approach to investigate cardiolipin metabolism in Barth syndrome

R. Wanders, P. Barth, H. Overmars, 2007 .

Non-decussating retinal-fugal fibre syndrome. An inborn achiasmatic malformation associated with visuotopic misrouting, visual evoked potential ipsilateral asymmetry and nystagmus.

L. Bour, P. Apkarian, P. Barth, 1995, Brain : a journal of neurology.

X-linked Pelizaeus-Merzbacher disease

P. Barth, J. C. Koetsveld-Baart, I. V. Gelderen, 1991, Clinical Neurology and Neurosurgery.

Cultured human muscle cells from controls and a Zellweger patient: Study on peroxisomes and peroxisomal functions

R. Wanders, R. Schutgens, P. Barth, 1987, Journal of Inherited Metabolic Disease.

Pathobiochemical implications of hyperdopaminuria in patients with aromatic L-amino acid decarboxylase deficiency

R. Wevers, P. Barth, N. Abeling, 2000, Journal of Inherited Metabolic Disease.

Hereditary protein S deficiency presenting with cerebral sinus thrombosis in an adolescent girl

P. Barth, J. Koelman, F. Peeters, 1992, Journal of Neurology.

ON THE RELATIONSHIP BETWEEN GERMINAL LAYER HAEMORRHAGE AND TELENCEPHALIC LEUCOENCEPHALOPATHY IN THE PRETERM INFANT

F. Stam, P. Barth, P. D. Bezemer, 1980, Neuropadiatrie.

The Heterogeneity of the Pena-Shokeir Syndrome

D. Lindhout, G. Hageman, P. Barth, 1987, Neuropediatrics.

“Vanishing White Matter” and Ovarian Dysgenesis in an Infant with Cerebro-Oculo-Facio-Skeletal Phenotype

D. Troost, E. Boltshauser, E. Martin, 2002, Neuropediatrics.

UvA-DARE ( Digital Academic Repository ) Molecular biology and pharmacogenetics of x-linked adrenoleukodystrophy

J. Mandel, P. Barth, S. Kemp, 2012 .

Mitochondrial encephalomyopathy: comparison of conventional MR imaging with diffusion-weighted and diffusion tensor imaging: case report.

G. D. den Heeten, C. Blank, C. Majoie, 2002, AJNR. American journal of neuroradiology.

Quantitative and compositional study of cardiolipin in platelets by electrospray ionization mass spectrometry: application for the identification of Barth syndrome patients.

R. Wanders, F. Valianpour, P. Barth, 2002, Clinical chemistry.

UvA-DARE ( Digital Academic Repository ) A mass spectrometric approach to investigate cardiolipin metabolism in Barth syndrome

F. Vaz, F. Valianpour, P. Barth, 2007 .

UvA-DARE ( Digital Academic Repository ) Classification , diagnosis and potential mechanisms in pontocerebellar hypoplasia

F. Baas, P. Barth, Y. Namavar, 2017 .