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Oral cysteamine bitartrate and N-acetylcysteine for patients with infantile neuronal ceroid lipofuscinosis: a pilot study

Lancet neurology, 2014-08, Vol.13 (8), p.777-787

2014

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Evaluation of disease progression in INCL by MR spectroscopy

Annals of clinical and translational neurology, 2015-08, Vol.2 (8), p.797-809

2015

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1.3 Mb de novo deletion in chromosome band 3q29 associated with normal intelligence in a child

European journal of medical genetics, 2010-11, Vol.53 (6), p.415-418

2010

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Children with Infantile Neuronal Ceroid Lipofuscinosis Have an Increased Risk of Hypothermia and Bradycardia During Anesthesia

Anesthesia and analgesia, 2009-08, Vol.109 (2), p.372-378

2009

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Lysosomal ceroid depletion by drugs: Therapeutic implications for a hereditary neurodegenerative disease of childhood

Nature medicine, 2001-04, Vol.7 (4), p.478-484

2001

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Bluish patches on the ears and axillae with dark urine: ochronosis and alkaptonuria

International journal of dermatology, 2001-05, Vol.40 (5), p.333-335

2001

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Oral Cysteamine bitartrate and N-acetylcysteine combination for patients with infantile neuronal ceroid lipofuscinosis:a pilot study

Lancet neurology, 2014-07, Vol.13 (8), p.777-787

2014

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Subdural fluid collections in patients with infantile neuronal ceroid lipofuscinosis

Archives of neurology (Chicago), 2009-12, Vol.66 (12), p.1567

2009

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The Weismann-Netter syndrome: a cause of bowed legs in childhood

Pediatrics (Evanston), 1991-08, Vol.88 (2), p.334-337

1991

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Molecularly defined interstitial tandem duplication 6p case with mild manifestations

American journal of medical genetics, 2001-11, Vol.103 (4), p.320-325

2001

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Proteus syndrome

Archives of dermatology (1960), 1989-08, Vol.125 (8), p.1109

1989

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1.3 Mb de novo deletion in chromosome band 3q29 associated with normal intelligence in a child

European journal of medical genetics, 2010, Vol.53 (6), p.415-418

2010

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Inhibition of thrombin-induced platelet aggregation by uteroglobin

Biochemical pharmacology, 1987-03, Vol.36 (5), p.741-746

1987

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Human leg heating using a mini‐annular phased array

Medical physics (Lancaster), 1986-07, Vol.13 (4), p.449-456

1986

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Terminal transverse limb defects associated with familial cavernous angiomatosis

American journal of medical genetics, 1992-02, Vol.42 (3), p.346-351

1992

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Isolated bilateral anophthalmia in a girl with an apparently balanced de novo translocation: 46,XX,t(3;11)(q27;p11.2)

American journal of medical genetics, 1999-11, Vol.87 (3), p.201-202

1999

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285 INHIBITION OF THROMBIN MEDIATED PLATELET AGGREGATION BY UTEROGLOBIN

Pediatric research, 1985-04, Vol.19 (4), p.158-158A

1985

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Rare interstitial deletion (2)(p11.2p13) in a child with pericentric inversion (2)(p11.2q13) of paternal origin

American journal of medical genetics, 1999-11, Vol.87 (2), p.139-142

1999

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Acrofacial dysostosis with ambiguous genitalia

American journal of medical genetics, 1990-11, Vol.37 (3), p.384-387

1990

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Balanced rearrangement of chromosomes 2, 5, and 13 in a family with duplication 5q and fetal loss

American journal of medical genetics, 1984-12, Vol.19 (4), p.783-790

1984

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Effect of cytomegalovirus co-infection on normalization of selected T-cell subsets in children with perinatally acquired HIV infection treated with combination antiretroviral therapy

PloS one, 2015-03, Vol.10 (3), p.e0120474-e0120474

2015

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Uteroglobin inhibits phospholipase A2 activity

Life sciences (1973), 1986-05, Vol.38 (20), p.1813-1819

1986

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Amino acid composition and N-terminal sequence of purified Cystine Binding Protein of Escherichia coli

Life sciences (1973), 1993, Vol.52 (14), p.1209-1215

1993

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Intrauterine growth retardation induced by thiamine deficiency and pyrithiamine during pregnancy in the rat

American journal of obstetrics and gynecology, 1985-02, Vol.151 (4), p.455-460

1985

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Improved stop-flow apparatus to measure permeability of human red cells and ghosts

Journal of biochemical and biophysical methods, 1980-11, Vol.3 (5), p.255-272

1980

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Oral cysteamine bitartrate and N-acetylcysteine for patients with infantile neuronal ceroid lipofuscinosis: a pilot study

Evaluation of disease progression in INCL by MR spectroscopy

1.3 Mb de novo deletion in chromosome band 3q29 associated with normal intelligence in a child

Children with Infantile Neuronal Ceroid Lipofuscinosis Have an Increased Risk of Hypothermia and Bradycardia During Anesthesia

Lysosomal ceroid depletion by drugs: Therapeutic implications for a hereditary neurodegenerative disease of childhood

Bluish patches on the ears and axillae with dark urine: ochronosis and alkaptonuria

Oral Cysteamine bitartrate and N-acetylcysteine combination for patients with infantile neuronal ceroid lipofuscinosis:a pilot study

Subdural fluid collections in patients with infantile neuronal ceroid lipofuscinosis

The Weismann-Netter syndrome: a cause of bowed legs in childhood

Molecularly defined interstitial tandem duplication 6p case with mild manifestations

Proteus syndrome

1.3 Mb de novo deletion in chromosome band 3q29 associated with normal intelligence in a child

Inhibition of thrombin-induced platelet aggregation by uteroglobin

Human leg heating using a mini‐annular phased array

Terminal transverse limb defects associated with familial cavernous angiomatosis

Isolated bilateral anophthalmia in a girl with an apparently balanced de novo translocation: 46,XX,t(3;11)(q27;p11.2)

285 INHIBITION OF THROMBIN MEDIATED PLATELET AGGREGATION BY UTEROGLOBIN

Rare interstitial deletion (2)(p11.2p13) in a child with pericentric inversion (2)(p11.2q13) of paternal origin

Acrofacial dysostosis with ambiguous genitalia

Balanced rearrangement of chromosomes 2, 5, and 13 in a family with duplication 5q and fetal loss

Effect of cytomegalovirus co-infection on normalization of selected T-cell subsets in children with perinatally acquired HIV infection treated with combination antiretroviral therapy

Uteroglobin inhibits phospholipase A2 activity

Amino acid composition and N-terminal sequence of purified Cystine Binding Protein of Escherichia coli

Intrauterine growth retardation induced by thiamine deficiency and pyrithiamine during pregnancy in the rat

Improved stop-flow apparatus to measure permeability of human red cells and ghosts

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