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Cholestane-3β,5α,6β-triol: high levels in Niemann-Pick type C, cerebrotendinous xanthomatosis, and lysosomal acid lipase deficiency

Journal of lipid research, 2015-10, Vol.56 (10), p.1926-1935

2015

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The role of the abnormalities in the distal pathway of cholesterol biosynthesis in the Conradi–Hünermann–Happle syndrome

Biochimica et biophysica acta, 2014-03, Vol.1841 (3), p.336-344

2014

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Lysine Restriction and Pyridoxal Phosphate Administration in a NADK2 Patient

Pediatrics (Evanston), 2016-11, Vol.138 (5)

2016

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The proteasome inhibitor bortezomib reduced cholesterol accumulation in fibroblasts from Niemann–Pick type C patients carrying missense mutations

The FEBS journal, 2014-10, Vol.281 (19), p.4450-4466

2014

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Functional overlap between ABCD1 (ALD) and ABCD2 (ALDR) transporters: a therapeutic target for X-adrenoleukodystrophy

Human molecular genetics, 2004-12, Vol.13 (23), p.2997-3006

2004

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Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation

Human mutation, 2017-02, Vol.38 (2), p.148-151

2017

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Autophagy induction halts axonal degeneration in a mouse model of X-adrenoleukodystrophy

Acta neuropathologica, 2015-03, Vol.129 (3), p.399-415

2015

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Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment

Orphanet journal of rare diseases, 2015-10, Vol.10 (1), p.138-138, Article 138

2015

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A key role for the peroxisomal ABCD2 transporter in fatty acid homeostasis

American journal of physiology: endocrinology and metabolism, 2009-01, Vol.296 (1), p.E211-E221

2009

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A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG)

Orphanet journal of rare diseases, 2017-09, Vol.12 (1), p.155-155, Article 155

2017

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Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation: HUMAN MUTATION

Human mutation, 2017-02, Vol.38 (2), p.148-151

2017

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Evaluation of the preventive effect of glyceryl trioleate-trierucate ("Lorenzo's oil") therapy in X-linked adrenoleukodystrophy: results of two concurrent trials

Advances in experimental medicine and biology, 2003, Vol.544, p.369

2003

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Severe infantile parkinsonism because of a de novo mutation on DLP1 mitochondrial‐peroxisomal protein

Movement disorders, 2017-07, Vol.32 (7), p.1108-1110

2017

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Autophagy induction halts axonal degeneration in a mouse model of x-adrenoleukodystrophy

Acta neuropathologica, 2015-03

2015

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International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up

Journal of inherited metabolic disease, 2019-05, Vol.42 (3), p.577-577

2019

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Diagnosis and Follow-Up of a Case of Peroxisomal Disorder With Peroxisomal Mosaicism

Journal of child neurology, 1999-07, Vol.14 (7), p.434-439

1999

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A key role for the peroxisomal ABCD2 transporter in fatty acid homeostasis

American journal of physiology: endocrinology and metabolism, 2009, Vol.59 (1)

2009

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Modifying the peroxisomes by cell & tissue culture: II. Fibroblasts

Advances in experimental medicine and biology, 2003, Vol.544, p.265

2003

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Nuestra experiencia diagnóstica en enfermedades peroxisomales con alteración del perfil de ácidos grasos

Revista de neurologiá, 2008, Vol.47 (1), p.1

2008

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Síndrome de Zellweger. Presentación de dos nuevos casos

Revista de neurologiá, 2003-06, Vol.36 (11), p.1030

2003

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diagnóstico de las enfermedades peroxisomales en España en el período 1987-1997

Revista de neurologiá, 1999, Vol.28 (S1), p.40

1999

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Peroxisome mosaics

Advances in experimental medicine and biology, 2003, Vol.544, p.97

2003

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Peroxisome Mosaics in the Liver of Patients and the Regulation of Peroxisome Expression in Rat Hepatocyte Cultures

Annals of the New York Academy of Sciences, 1996-12, Vol.804 (1), p.502-515

1996

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Peroxisome Mosaics in the Liver of Patients and the Regulation of Peroxisome Expression in Rat Hepatocyte Culturesa

Annals of the New York Academy of Sciences, 1996-12, Vol.804 (1), p.502-515

1996

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Cholestane-3β,5α,6β-triol: high levels in Niemann-Pick type C, cerebrotendinous xanthomatosis, and lysosomal acid lipase deficiency

The role of the abnormalities in the distal pathway of cholesterol biosynthesis in the Conradi–Hünermann–Happle syndrome

Lysine Restriction and Pyridoxal Phosphate Administration in a NADK2 Patient

Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization

The proteasome inhibitor bortezomib reduced cholesterol accumulation in fibroblasts from Niemann–Pick type C patients carrying missense mutations

Functional overlap between ABCD1 (ALD) and ABCD2 (ALDR) transporters: a therapeutic target for X-adrenoleukodystrophy

Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation

Autophagy induction halts axonal degeneration in a mouse model of X-adrenoleukodystrophy

Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment

A key role for the peroxisomal ABCD2 transporter in fatty acid homeostasis

A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG)

Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation: HUMAN MUTATION

Evaluation of the preventive effect of glyceryl trioleate-trierucate ("Lorenzo's oil") therapy in X-linked adrenoleukodystrophy: results of two concurrent trials

Severe infantile parkinsonism because of a de novo mutation on DLP1 mitochondrial‐peroxisomal protein

Autophagy induction halts axonal degeneration in a mouse model of x-adrenoleukodystrophy

International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up

Diagnosis and Follow-Up of a Case of Peroxisomal Disorder With Peroxisomal Mosaicism

A key role for the peroxisomal ABCD2 transporter in fatty acid homeostasis

Modifying the peroxisomes by cell & tissue culture: II. Fibroblasts

Nuestra experiencia diagnóstica en enfermedades peroxisomales con alteración del perfil de ácidos grasos

Síndrome de Zellweger. Presentación de dos nuevos casos

diagnóstico de las enfermedades peroxisomales en España en el período 1987-1997

Peroxisome mosaics

Peroxisome Mosaics in the Liver of Patients and the Regulation of Peroxisome Expression in Rat Hepatocyte Cultures

Peroxisome Mosaics in the Liver of Patients and the Regulation of Peroxisome Expression in Rat Hepatocyte Culturesa

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