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Clinical and biochemical studies in mucopolysaccharidosis type II carriers

Journal of inherited metabolic disease, 2009-12, Vol.32 (6), p.732-738

2009

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Glycogen storage disease type Ia: molecular study in Brazilian patients

Journal of human genetics, 2001-03, Vol.46 (3), p.146-149

2001

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A novel mutation in a Brazilian patient with glycogen storage disease type 1a

Journal of inherited metabolic disease, 1998-06, Vol.21 (4), p.447-447

1998

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Total body zinc depletion and its relationship to the development of hyperprolactinemia in chronic renal insufficiency

Journal of endocrinological investigation, 1996-07, Vol.19 (7), p.441-448

1996

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Multimedia system based on programmed instruction in medical genetics: construction and evaluation

International journal of medical informatics, 1998-06, Vol.50 (1), p.257-259

1998

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Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients

Molecular genetics and metabolism, 2003, Vol.78 (1), p.37-43

2003

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Metacarpophalangeal pattern profile in Marfan syndrome and Marfan-like patients

American journal of medical genetics, 1997-10, Vol.72 (2), p.159-163

1997

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Spondylocarpotarsal synostosis with ocular findings

American journal of medical genetics, 2000-03, Vol.91 (2), p.131-134

2000

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The feasibility of introducing a visual screening test for children during vaccination campaigns

Journal of pediatric ophthalmology and strabismus, 2000-03, Vol.37 (2), p.68-72

2000

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A clinical study of 77 patients with mucopolysaccharidosis type II

Acta Paediatrica, 2007-04, Vol.96 (s455), p.63-70

2007

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P445 Electrophysiologic and histologic findings following intrathecal AAV9 mediated gene transfer for giant axonal neuropathy

Neuromuscular disorders : NMD, 2023-10, Vol.33, p.S189-S190

2023

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OUTCOME MEASURES

Neuromuscular disorders : NMD, 2021-10, Vol.31, p.S149

2021

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OUTCOME MEASURES: EP.326 Serum neurofilament light chain analysis in giant axonal neuropathy

Neuromuscular disorders : NMD, 2021-10, Vol.31, p.S149-S149

2021

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O.10 First-in-human intrathecal gene transfer study for giant axonal neuropathy: Preliminary review of long-term efficacy and safety

Neuromuscular disorders : NMD, 2022-10, Vol.32, p.S94

2022

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HEREDITARY NEUROPATHIES & ALS: P.108 First-in-human intrathecal gene transfer study for giant axonal neuropathy: Three-year interim evaluation of safety and efficacy

Neuromuscular disorders : NMD, 2020-10, Vol.30, p.S78-S78

2020

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HEREDITARY NEUROPATHIES & ALS

Neuromuscular disorders : NMD, 2020-10, Vol.30, p.S78

2020

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CMT AND NEUROGENIC DISEASE: P.337Giant axonal neuropathy presenting as CMT2: results from the NIH natural history study

Neuromuscular disorders : NMD, 2018-10, Vol.28, p.S132-S132

2018

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CMT AND NEUROGENIC DISEASE

Neuromuscular disorders : NMD, 2018-10, Vol.28, p.S132

2018

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Further cases of "neighbor" mutations in mucopolysaccharidosis type II

American journal of medical genetics. Part A, 2006-08, Vol.140A (15), p.1684-1686

2006

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Molecular findings in Brazilian patients with osteogenesis imperfecta

Journal of applied genetics, 2005, Vol.46 (1), p.105-108

2005

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Identification de l’incisure pré-occipitale en pièces anatomiques et à l’imagerie par résonance magnétique

Neuro-chirurgie, 2004-11, Vol.50 (5), p.603-603

2004

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Clinical and biochemical studies in mucopolysaccharidosis type II carriers

Glycogen storage disease type Ia: molecular study in Brazilian patients

A novel mutation in a Brazilian patient with glycogen storage disease type 1a

Total body zinc depletion and its relationship to the development of hyperprolactinemia in chronic renal insufficiency

Multimedia system based on programmed instruction in medical genetics: construction and evaluation

Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients

Metacarpophalangeal pattern profile in Marfan syndrome and Marfan-like patients

Spondylocarpotarsal synostosis with ocular findings

The feasibility of introducing a visual screening test for children during vaccination campaigns

A clinical study of 77 patients with mucopolysaccharidosis type II

P445 Electrophysiologic and histologic findings following intrathecal AAV9 mediated gene transfer for giant axonal neuropathy

OUTCOME MEASURES

OUTCOME MEASURES: EP.326 Serum neurofilament light chain analysis in giant axonal neuropathy

O.10 First-in-human intrathecal gene transfer study for giant axonal neuropathy: Preliminary review of long-term efficacy and safety

HEREDITARY NEUROPATHIES & ALS: P.108 First-in-human intrathecal gene transfer study for giant axonal neuropathy: Three-year interim evaluation of safety and efficacy

HEREDITARY NEUROPATHIES & ALS

CMT AND NEUROGENIC DISEASE: P.337Giant axonal neuropathy presenting as CMT2: results from the NIH natural history study

CMT AND NEUROGENIC DISEASE

Further cases of "neighbor" mutations in mucopolysaccharidosis type II

Molecular findings in Brazilian patients with osteogenesis imperfecta

Identification de l’incisure pré-occipitale en pièces anatomiques et à l’imagerie par résonance magnétique

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