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A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome

American journal of human genetics, 2012-01, Vol.90 (1), p.161-169

2012

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Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment: Consensus statements

European journal of pediatrics, 2004-02, Vol.163 (2), p.58-66

2004

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Genotype/phenotype correlation in glycogen storage disease type 1b : a multicentre study and review of the literature

European journal of pediatrics, 2005-08, Vol.164 (8), p.501-508

2005

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Clinical phenotype of lathosterolosis

American journal of medical genetics. Part A, 2007-10, Vol.143A (20), p.2371-2381

2007

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Increased Prevalence of Thyroid Autoimmunity and Hypothyroidism in Patients with Glycogen Storage Disease Type I

The Journal of pediatrics, 2007-03, Vol.150 (3), p.300-305.e1

2007

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

European journal of pediatrics, 2004-02, Vol.163 (2), p.67-75

2004

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A y LAT-1 mutant protein interferes with y LAT-2 activity: implications for the molecular pathogenesis of lysinuric protein intolerance

European journal of human genetics : EJHG, 2005-05, Vol.13 (5), p.628-634

2005

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X-linked recessive chondrodysplasia punctata: Spectrum of arylsulfatase E gene mutations and expanded clinical variability

American journal of medical genetics, 2003-03, Vol.117A (2), p.164-168

2003

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Characterization of liver involvement in defects of cholesterol biosynthesis: Long-term follow-up and review

American journal of medical genetics, 2005-01, Vol.132A (2), p.144-151

2005

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Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and the human recombinant alpha-galactosidase A in cultured fibroblasts from patients with Fabry disease

Journal of inherited metabolic disease, 2012-05, Vol.35 (3), p.513-520

2012

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Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations

Neurology, 2009-09, Vol.73 (12), p.962

2009

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The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann-Pick disease type C after therapy with miglustat

American journal of medical genetics. Part A, 2011-03, Vol.155A (3), p.540-547

2011

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Lysinuric Protein Intolerance: Reviewing Concepts on a Multisystem Disease: Newborn Screening and Inborn Errors of Metabolism

American journal of medical genetics. Part C, Seminars in medical genetics, 2011, Vol.157 (1), p.54-62

2011

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Testing for Tetrahydrobiopterin Responsiveness in Patients with Hyperphenylalaninemia due to Phenylalanine Hydroxylase Deficiency

Advances in therapy, 2013-03, Vol.30 (3), p.212-228

2013

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The Gene Encoding a Cationic Amino Acid Transporter (SLC7A4) Maps to the Region Deleted in the Velocardiofacial Syndrome

Genomics (San Diego, Calif.), 1998-04, Vol.49 (2), p.230-236

1998

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Clinical description of a patient carrying the smallest reported deletion involving 10p14 region

American journal of medical genetics. Part A, 2012-04, Vol.158A (4), p.832-835

2012

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Recurrent Dominant Mutations Affecting Two Adjacent Residues in the Motor Domain of the Monomeric Kinesin KIF22 Result in Skeletal Dysplasia and Joint Laxity

American journal of human genetics, 2011-12, Vol.89 (6), p.767-772

2011

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Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22

American journal of medical genetics. Part A, 2011-07, Vol.155 (7), p.1697-1705

2011

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SLC7A7 , encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance

Nature genetics, 1999-03, Vol.21 (3), p.297-301

1999

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Chronic Diarrhea in Mucopolysaccharidosis IIIB

Journal of pediatric gastroenterology and nutrition, 2009-10, Vol.49 (4), p.477-480

2009

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Recurrent fatal pulmonary alveolar proteinosis after heart-lung transplantation in a child with lysinuric protein intolerance

The Journal of pediatrics, 2004-08, Vol.145 (2), p.268-272

2004

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The Growth Hormone-Insulin-like Growth Factor Axis in Glycogen Storage Disease Type 1: Evidence of Different Growth Patterns and Insulin-like Growth Factor Levels in Patients with Glycogen Storage Disease Type 1 a and 1 b

The Journal of pediatrics, 2010, Vol.156 (4), p.663-670

2010

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Deletions and translocations involving the distal short arm of the human X chromosome: review and hypotheses

Human molecular genetics, 1992-07, Vol.1 (4), p.221-227

1992

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Congenital Insensitivity to Pain with Anhidrosis: Novel Mutations in the TRKA ( NTRK1) Gene Encoding A High-Affinity Receptor for Nerve Growth Factor

American journal of human genetics, 1999-06, Vol.64 (6), p.1570-1579

1999

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Absence of microcephalin gene mutations in a large cohort of non-consanguineous patients with autosomal recessive primary microcephaly

American journal of medical genetics. Part A, 2010-11, Vol.152A (11), p.2882-2885

2010

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A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome

Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment: Consensus statements

Genotype/phenotype correlation in glycogen storage disease type 1b : a multicentre study and review of the literature

Clinical phenotype of lathosterolosis

Increased Prevalence of Thyroid Autoimmunity and Hypothyroidism in Patients with Glycogen Storage Disease Type I

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

A y LAT-1 mutant protein interferes with y LAT-2 activity: implications for the molecular pathogenesis of lysinuric protein intolerance

X-linked recessive chondrodysplasia punctata: Spectrum of arylsulfatase E gene mutations and expanded clinical variability

Characterization of liver involvement in defects of cholesterol biosynthesis: Long-term follow-up and review

Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and the human recombinant alpha-galactosidase A in cultured fibroblasts from patients with Fabry disease

Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations

The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann-Pick disease type C after therapy with miglustat

Lysinuric Protein Intolerance: Reviewing Concepts on a Multisystem Disease: Newborn Screening and Inborn Errors of Metabolism

Testing for Tetrahydrobiopterin Responsiveness in Patients with Hyperphenylalaninemia due to Phenylalanine Hydroxylase Deficiency

The Gene Encoding a Cationic Amino Acid Transporter (SLC7A4) Maps to the Region Deleted in the Velocardiofacial Syndrome

Clinical description of a patient carrying the smallest reported deletion involving 10p14 region

Recurrent Dominant Mutations Affecting Two Adjacent Residues in the Motor Domain of the Monomeric Kinesin KIF22 Result in Skeletal Dysplasia and Joint Laxity

Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22

SLC7A7 , encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance

Chronic Diarrhea in Mucopolysaccharidosis IIIB

Recurrent fatal pulmonary alveolar proteinosis after heart-lung transplantation in a child with lysinuric protein intolerance

The Growth Hormone-Insulin-like Growth Factor Axis in Glycogen Storage Disease Type 1: Evidence of Different Growth Patterns and Insulin-like Growth Factor Levels in Patients with Glycogen Storage Disease Type 1 a and 1 b

Deletions and translocations involving the distal short arm of the human X chromosome: review and hypotheses

Congenital Insensitivity to Pain with Anhidrosis: Novel Mutations in the TRKA ( NTRK1) Gene Encoding A High-Affinity Receptor for Nerve Growth Factor

Absence of microcephalin gene mutations in a large cohort of non-consanguineous patients with autosomal recessive primary microcephaly

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